Archive for the ‘Gene Therapy Doctor’ Category

Nicholas Bell arrived at the gym on a sunny December afternoon, climbed aboard a treadmill and jogged, occasionally slowing for a breather.

His run done, he headed for the weights. Its a routine hes been trying to fit in three or four days a week.

But until a few months ago, Bell, 36, had largely stopped working out. Just walking up the stairs of his Benson-area home left him winded.

Then in late September, he started a new therapy for cystic fibrosis, the rare, progressive disease he was diagnosed with at 6 months old.

The treatment, a three-drug combo called Trikafta, has been hailed as the first to show dramatic improvement in lung function in most people with the disease. While not a cure, its expected to benefit 90% of patients, including those who have the most common mutation in the cystic fibrosis gene, called CFTR, which was discovered 30 years ago. The Food and Drug Administration approved the therapy in late October for patients 12 and older.

Now that hes back to working out, Bell realized it wasnt motivation he lacked, but the ability to do the work.

Its exciting I can work out and still have energy to walk the dog and go be with my friends, he said of his recent turnaround.

Until a few months ago, Nicholas Bell, 36, had largely stopped working out. Just walking up the stairs of his Benson-area home left him winded. Then in late September, he started a new therapy for cystic fibrosis.

Cystic fibrosis affects an estimated 30,000 people in the United States and 70,000 worldwide. It causes thick mucus to build up in organs, damaging patients lungs and digestive systems.

In clinical trials, the drug boosted lung capacity an average of 14%, said Dr. Peter J. Jim Murphy, program director of the Adult Cystic Fibrosis Program at the University of Nebraska Medical Center/Nebraska Medicine. That program and the Pediatric Cystic Fibrosis Center at Childrens Hospital & Medical Center form the Nebraska Regional Cystic Fibrosis Center, which treats more than 300 patients. One Childrens patient participated in clinical trials of the drug.

We face, every day, steady decline in lung function in virtually all of our patients, he said. In one fell swoop, youve turned that around. Its whoops and hollers for the cystic fibrosis team, and has driven quite a few patients to tears of joy.

And while most attention has focused on the initial boost the drug provides in lung function, Murphy said, doctors also are hoping it will decrease the rate of decline in that function by as much or more as earlier drugs. Long-term results, of course, are not yet in.

All adults face a decrease in function after age 30, he said, but its typically not enough to cause problems. Cystic fibrosis patients, however, lose lung function about four times faster on average than the typical person.

They very quickly cut into the lung function they need to live their daily lives, not just to run marathons, he said.

Get the latest health headlines and inspiring stories straight to your inbox.

Bell has had his own ups and downs with the disease, including a near-death episode in 2016 that prompted his doctor to suggest it was time to consider a lung transplant. He avoided that by focusing on his health, and saw some significant improvements. But he became really ill in mid-2018 after catching a bug.

He got Trikafta a bit before the FDA approved it through a program that offered the therapy to people like himself who at the time had low lung function.

By the two-month mark, his lung function had increased by 19%, the biggest gain hes ever seen. Hes been using that improvement as a springboard to bolster his physical fitness. Hes been working to push his mile time below 10 minutes, and he plans to train for a cystic fibrosis extreme hike in Colorado next fall. He hasnt experienced any notable side effects, although hes seen posts in online groups from some who have.

With his improved energy level, hes also back to doing more writing. A teaching artist with the Nebraska Writers Collective, he coordinates a program that sends instructors into prisons to teach creative writing and also helps teach a slam poetry class at Omahas Central High School. He and his wife, Kristin, celebrated their third anniversary earlier this month.

Im happy to be where Im at now, he said.

Hes also keeping on top of his cystic fibrosis treatment routine. That includes donning a percussion vest that breaks up mucus in his lungs three times a day for between 30 and 45 minutes. He also uses a nebulizer, a device that turns liquid medications into a mist he inhales.

He encourages other people with cystic fibrosis to do the same. A clinical trial is being launched to determine whether patients can pare back their regimens, but those results arent in. He said his fear is that younger patients will decide the disease is cured and drop their treatments.

I think its important for us right now to just stick to our regimen, he said.

Nicholas Bell said his fear is that younger patients will decide that with the new therapy, cystic fibrosis is cured and drop their treatments. I think its important for us right now to just stick to our regimen, he said.

Dr. Heather Thomas, director of Childrens cystic fibrosis center, is eager for results of other studies, those testing the drug in children ages 6 to 11.

Kids stand to benefit even more than adults if the therapy can slow the diseases progression.

The earlier we can get kids on, the better, she said. So far, theres no indication the therapy wont work in younger children.

Older pediatric patients who got the drug also experienced fewer pulmonary exacerbations, meaning they didnt get sick as often. That would be a huge win for families, Thomas said.

Research also is needed to help the 10% of patients whose disease is caused by different mutations. The Cystic Fibrosis Foundation launched a $500 million campaign in late October intended to accelerate efforts to cure the disease.

Another concern raised after the drugs approval was whether patients would have access to it, given its price tag of $311,000 a year.

But Murphy said patients have been able to get the drug through insurance and patient assistance programs, typically with a relatively small co-pay. A small minority have been denied, but those denials have been reversed on appeal.

Its dramatic, life-changing and, we believe, life-prolonging, he said. Its important to know that its not a cure, and that our job as cystic fibrosis providers is still going to be here. But its going to be different.

Bell, the poet, has his own word for it.

Its freeing, he said. It definitely has been very freeing.

This report includes material from the Washington Post.

Matthew Eledge and husband Elliot Doughertyplan to explain her out-of-the-ordinary birth to their daughter in terms she can understand: that her grandmother furnished the garden where she grew, and that her aunt, Lea Yribe, generously supplied the seeds.

One pothole did a passenger a favor when the ambulance he was in struck it, according to first responders. Gretna firefighters were taking a man suffering chest pain and a high heart rate to the hospital. While en route to Lakeside Hospital, the ambulance hit a pothole. The jolt returned the patients heart rate to normal.

Thought to be brain dead, doctors took former Creighton Bluejays play-by-play announcer T. Scott Marr off life support. Before his family settled on a funeral home, they decided to see their dad one more time. When they got there, he was awake and speaking.

Karla Perez was 22 weeks pregnant when she suffered a catastrophic brain bleed and was declared brain dead. Her unborn child was alive, but wouldn't survive delivery. So family and doctors kept her on life support.Angel was born eight weeks later.

Darnisha Ladd never imagined Snapchat would help save her life after she suffered a stroke. But needing a precise timeline of events, doctors and family relied on a post on the phone app and were able to give her a needed medication in time.

Lindsey and Derek Teten's triplets are one in a million. Literally. The Nebraska City couple's three daughters, born in late June 2017, are identical and were conceived without fertility treatments. The girls were the second set of spontaneous triplets born at Methodist Women's Hospital. The first set, also girls, was born in 2015.

Doctors diagnosed the paralysis that was creeping up Justin Chenier's legs as Guillain-Barre syndrome. It would become so serious that the Omaha man would nearly lose consciousness while screaming because of the pain. The syndrome was triggered by West Nile virus.

Kenze Messman's been diagnosed with several chronic illnesses. Sometimes her heart rate climbs, seizures send her to the floor and migraines leave her in the dark. And one of the ailments causes the 17-year-old to have allergic reactions to almost everything.

The skin on Sharan Bryson's leg was black from lack of circulation. She felt nothing but a sharp, stabbing pain. The leg was dead, and her best option was amputation. Bryson bounced back and put her hard work to the test by running a 5K.

Chase Tiemann has had numerous surgeries in his young life, including the amputation of his left arm. The Omaha boy has a condition that causes tumors sometimes benign, sometimes cancerous to form on his body. To boost his spirits after amputation, the Papillion Fire Department named Chase an honorary firefighter.

Wesley Woods battled heart disease for 20 years. He'd racked up nine heart attacks, multiple surgeries and one heart transplant. He was tired of hospitals. Tired of chest pain. Tired of feeling tired. Woods was lucky he received a second transplant.

Amber Kudrna wasn't sure she'd be able to have a child of her own. After two kidney transplants, doctors gave the Omaha woman a laundry list of potential pregnancy complications. Kudrna and husband Adam weighed their options and, in September 2018, welcomed a baby boy.

Joe Nolan couldn't take his son James' pain away. But he could find a way to share it. Nolan got a tattoo that arched across his head, just like his son's scar. James was born with a handful of ailments, including one that regularly requires his skull to be reshaped.

More:
Once winded walking up stairs, Omaha man is back in gym thanks to new cystic fibrosis therapy - Omaha World-Herald

Calgary Flames assistant general manager Chris Snow has been diagnosed with ALS, also known as Lou Gehrigs disease.

The club made that heart-wrenching announcement Wednesday by sharing a letter from his wife, Kelsie.

Snow, an analytics expert, has been on staff at the Saddledome since 2011. The 38-year-old father of two is now enrolled in a clinical trial to treat the disease.

A letter from Kelsie Snow

Dear Hockey Family,

Im here to share news we prayed so hard wed never have.

Chris has been diagnosed with ALS.

ALS is a horrible disease, and when we went to Miami to see one of the best ALS doctors and researchers out there, we prayed hard. We believe there are miracles in the world and maybe, maybe we would get one.

And we did, just not the one wed hoped for.

In the same breath as the doctor telling us that Chris was in the early stages of ALS, he also gave us hope. The next step, he said, was to enroll Chris in a clinical trial for the most encouraging ALS gene therapy treatment to come along. The drug targets a specific genetic mutation that has devastated Chris family. Just over one year ago Chris dad passed away from ALS. We have also lost both of Chris paternal uncles and his 28-year-old cousin to this disease.

In the simplest terms, this drug works by silencing the effects of the mutated gene, and in Miami we could see how hopeful the doctor felt. So hopeful that when I asked if he believes this drug could stop progression entirely, he said, We dont know, but its not outside the realm of possibility.

And so we are leaning into that possibility, as hard as we can, working to stay positive and living with intention every single day. And now we believe we have results to lean into as well.

Chris has been in the trial for several months, and while we do not know whether he is on the actual drug or a placebo, the disease since that initial dose does not seem to have progressed. His right hand and forearm remain the only affected areas of his otherwise strong and healthy body.

Someone has to be the first person to live with ALS rather than die from it, and one thing Ive always known about Chris is that he finds a way. No matter the obstacle, no matter how unprecedented the situation may be he always, always finds a way.

We know that our hockey family will want to help, and we appreciate that so much. Heres how you can do that.

Be positive and hopeful with us, pray for us in whatever way you pray, and dont treat us most especially Chris differently than you always have. He is the same person today he was yesterday and he will be the same person tomorrow and in two months and beyond. Hug your family, wring all the joy from each moment of your life, play with your children, and be present all things at which Chris has always been wonderful.

Continue to love us and love our kids. Of all the devastation this diagnosis brought, the idea of telling the two of them they were going to lose their dad was the most crushing. But now we have hope and, we believe, a different story.

The most tangible way you can help us is by donating to research. ALS is a rare disease, and rare diseases arent easily cured. Fewer than 20,000 people in North America are estimated to be living with ALS. Of them only 2,000 are living with familial ALS, the kind caused by a gene passed down within a family. And yet this has torn through Chris family. At the University of Miami researchers are focused on developing treatments for ALS, including those with familial forms of the disease. They have pioneered the study of the pre-symptomatic stage of ALS with the goal of one day being able to delay or even prevent the disease. With your help they can afford to do more and do it faster. To donate, please visit this link:http://uom.convio.net/goto/chrissnow

The next most powerful thing you can do for us is to believe in this treatment. Our hope is rooted in the results we believe we are seeing and in the optimism expressed by doctors who have spent their careers studying this disease.

As our neurologist said after Chris received his first dose in the trial Were here to make history.

Kelsie Snow

Read this article:
'We have hope': Flames assistant GM Chris Snow diagnosed with ALS - National Post

Augmented Reality is already disrupting Healthcare, changing the way physicians see data and their patients. Its being used for patient and doctor education, surgical visualization, disease simulation, and may even help save lives enhancing patient treatments, and outcomes.

Its even making surgery safer, providing surgeons with 3D overlays to enhance the visibility of organs, veins, and diagnosis reports, cutting down on the chance for error. In addition, Augmented Reality plays a crucial role in education, providing real-life simulation surgeries for doctors without the risk of getting it wrong with a live patient. Neurosurgeons have even used Augmented Reality to remove a three-centimeter wide brain tumor in a patients parietal lobe. The best part all of this is being done by ARs ability to blend digital imagery with the real world.

By 2023, the global Augmented reality in Healthcare could become a $1.32 billion market. All of that is creating a sizable opportunity for companies including NexTech AR Solutions, Intuitive Surgical Inc., Medtronic PLC, Abiomed Inc., and Thermo Fisher Scientific Inc.

Read More: Measuring CCPA Preparedness of Big Data Companies: Facts and Insights

NexTech AR Solutions BREAKING NEWS: NexTech AR Solutions, the leader in Augmented Reality (AR) for e-commerce and AR learning applications is pleased to announce that Sterilis Solutions, one ofthe United Statesmost innovative medical waste device manufacturers, has signed on for both NexTechs WebAR offering as well as its AR University. Todays announcement marks the beginning of a significant new use case and opportunity for NexTechs AR technology in the medical device market, which according to Fortune Business Insights is worth$150 billion. Sterilis will be providing Nextechs AR learning assets to its leading dealers and their Sales teams.

Andy Marshall, CEO, Sterilis stresses the critical importance of using AR technology from NexTech AR Solution, AR is more powerful than a brochure especially with the interaction. He continued, We will use it to educate our customers on the core functions of our device as well as supporting our Sales team in showing off this 1,100 lb. machine to our global dealer network.

Echoing the business impact that NexTech AR can have on leading medical device manufacturers such as Sterilis,Evan Gappelberg, CEO of NexTech stated,

We are excited that Sterilis has adopted NexTechs powerful and industry-leading Augmented Reality offering to drive both its product marketing and client education activities. Because our proprietary 3D Augmented Reality (3D/AR) solution and our AR learning tools works on any AR-enabled mobile phone it will help Sterilis to vastly improve its product demonstration capabilities while significantly enhancing its ability to communicate key competitive features of its products at trade shows and really everywhere. He continues, Sterilis has chosen NexTech as a key business growth partner.

Evan added, Unlike other AR/VR companies which charge a fortune and which often require special software and training, NexTechs easy to use and monthly revenue-focused product suite allows its clients to do more and to sell more. All of this results in a stronger bottom line for our customers and recurring revenues for us.

Read More: Like A Machine: How RPA, ML And AI Deliver Smoother And More Streamlined Processes To Accounts Receivable Departments

Intuitive Surgical Inc.announcedU.S. Food and Drug Administrationclearanceof two innovative technologies for two of the companys da Vincisurgical systems to help improve procedures that require sealing. Intuitives E-100 generator is its first internally developed robotic generator to power two key instruments on the da Vinci X and Xi systems. Vessel Sealer Extend is the flagship instrument in the da Vinci energy sealing portfolio today, and the new SynchroSeal instrument offers enhanced capabilities in general surgery.

We are pleased to receive FDA clearance, providing surgeons an additional tool for the X and Xi da Vinci platforms, saidBob DeSantis, Intuitives Senior Vice President and General Manager for Instruments and Accessories. We developed SynchroSeal and the E-100 generator to help surgeons quickly seal and transect tissue and vessels, facilitating efficient technique.

Medtronic PLCandChristianaCareannounced a collaboration designed to improve outcomes for ChristianaCare patients inDelawareand the surrounding region. The five-year agreement will focus on developing and deploying value-based healthcare initiatives to help ChristianaCare apply the right medical technologies and therapies to patients who may benefit most, with shared financial accountability between ChristianaCare and Medtronic to improve patient outcomes while reducing the cost of care.

Theres a general consensus that a fee-for-service system is not sustainable, and a value-based system is the way to go, but how becomes a question. We want to take that on, but transformation can only happen through collaboration with others with aligned views and aligned reward mechanisms, said Omar Ishrak, Chairman and Chief Executive Officer of Medtronic.

ChristianaCares shared commitment to developing value-based healthcare initiatives makes them an ideal partner for Medtronic.

Abiomed Inc.announced initiation of theST-Elevation Myocardial Infarction Door-to-Unloading (STEMI DTU) Pivotal Randomized Controlled Trial (RCT), which will explore whether unloading the hearts left ventricle for 30 minutes with an Impella heart pumpprior to opening blocked arteries will reduce infarct size after a heart attack and lead to a reduction in future heart failure rates.

The first patient in the multi-center trial was enrolled atSpectrum HealthinGrand Rapids,Michigan, by Kevin Wolschleger, MD. The Impella CP heart pump will be used in the STEMI DTU randomized controlled trial, which will study unloading prior to reperfusion as a therapy to reduce heart failure risk.

We are honored to be the first to enroll in this important study which builds on earlier research that shows promise for slowing the growing epidemic of heart failure and improving outcomes for heart attack patients around the world, said Dr. Wolschleger, an interventional Cardiologist at Spectrum Health. Spectrum Health has one of the longest Impella experiences in the United States, and we are proud and excited to be a part of this pivotal clinical trial that has the promise to bring this paradigm-changing therapy to patients, said David Wohns, MD, Chief of Cardiology at Spectrum Health.

Thermo Fisher Scientific Inc. officially opened its new$90 million viral vector CDMO (contract development and manufacturing organization) site in Lexington, Mass. The 50,000-square-foot facility will add more than 200 jobs and support the development, testing and manufacture of viral vectors, which are critical to advancing new life-saving gene and cell therapies globally. Thermo Fishersinvestment in both the regional economic development of the Commonwealth and its commitment to furthering STEM education for young women will well serveMassachusettsand its communities, said GovernorCharlie Baker. We look forward to working together to continue to build upon and strengthen the states role as a global leader in innovation.

Earlier this year, Thermo Fisher completed the acquisition of Brammer Bio, adding this leading viral vector CDMO to its Pharma Services business. The new Lexington site provides much-needed capacity for viral vector development and manufacturing, which to date has been a bottleneck for Biotech companies. This investment is part of a larger strategy to accelerate commercialization of new therapies by providing a range of services from drug development through clinical trials to commercial manufacturing to support Pharma and Biotech companies of all sizes.

The demand for new gene therapies has outpaced capacity, and were in a unique position to partner with our customers to help them accelerate development and production of medicines that will ultimately benefit patients suffering from rare diseases, said Michel Lagarde, executive Vice President of Thermo Fisher Scientific. Were also excited to create 200 new jobs that support the thriving Biotech industry in Massachusetts.

Read More: Worlds Largest Blockchain Application Competition Klaytn Horizon Winners Announced

Read more from the original source:
Augmented Reality is the Future of Healthcare Industry - AiThority

Financialnewsmedia.com News Commentary

PALM BEACH, Florida, Dec. 17, 2019 /PRNewswire/ -- Augmented reality is already disrupting healthcare, changing the way physicians see data and their patients. It's being used for patient and doctor education, surgical visualization, disease simulation, and may even help save lives enhancing patient treatments, and outcomes, according to Med City News. It's even making surgery safer, providing surgeons with 3D overlays to enhance visibility of organs, veins, and diagnosis reports, cutting down on the chance for error. In addition, augmented reality plays a crucial role in education, providing real-life simulation surgeries for up and coming doctors without the risk of getting it wrong with a live patient. Neurosurgeons have even used augmented reality to remove a three-centimeter wide brain tumor in a patient's parietal lobe. The best part all of this is being done by AR's ability to blend digital imagery with the real world. By 2023, says Market Research Future, the global augmented reality in healthcare could become a $1.32 billion market. All of that is creating sizable opportunity for companies including NexTech AR Solutions(OTCQB: NEXCF)(CSE: NTAR), Intuitive Surgical Inc. (NASDAQ:ISRG), Medtronic PLC (NYSE:MDT), Abiomed Inc. (NASDAQ:ABMD), and Thermo Fisher Scientific Inc. (NYSE:TMO).

NexTech AR Solutions(OTCQB: NEXCF)(CSE: NTAR) BREAKING NEWS: NexTech AR Solutions, the leader in augmented reality (AR) for eCommerce and AR learning applications is pleased to announce that Sterilis Solutions, one of the United States' most innovative medical waste device manufacturers, has signed on for both NexTech's WebAR offering as well as its AR University. Today's announcement marks the beginning of a significant new use case and opportunity for NexTech's AR technology in the medical device market, which according to Fortune Business Insights is worth $150 billion. Sterilis will be providing Nextech's AR learning assets to its leading dealers and their sales teams. Andy Marshall, CEO, Sterilis stresses the critical importance of using AR technology from NexTech AR Solution, "AR is more powerful than a brochure especially with the interaction." He continues that, "We will use it to educate our customers on the core functions of our device as well as supporting our sales team in showing off this 1,100 lb. machine to our global dealer network."

Echoing the business impact that NexTech AR can have on leading medical device manufacturers such as Sterilis, Evan Gappelberg, CEO of NexTech states: "We are excited that Sterilis has adopted NexTech's powerful and industry-leading augmented reality offering to drive both its product marketing and client education activities. Because our proprietary 3D augmented reality (3D/AR) solution and our AR learning tools works on any AR enabled mobile phone it will help Sterilis to vastly improve its product demonstration capabilities while significantly enhancing its ability to communicate key competitive features of its products at trade shows and really everywhere." He continues, "Sterilis has chosen NexTech as a key business growth partner. Unlike other AR/VR companies which charge a fortune and which often require special software and training, NexTech's easy to use and monthly revenue-focused product suite allows its clients to do more and to sell more. All of this results in a stronger bottom line for our customers and recurring revenues for us."

Other related developments from around the markets include:

Intuitive Surgical Inc. (NASDAQ:ISRG) announcedU.S. Food and Drug Administrationclearanceof two innovative technologies for two of the company's da Vincisurgical systems to help improve procedures that require sealing. Intuitive's E-100 generator is its first internally developed robotic generator to power two key instruments on the da VinciXand Xisystems. Vessel Sealer Extend is the flagship instrument in the da Vinci energy sealing portfolio today, and the new SynchroSeal instrument offers enhanced capabilitiesin general surgery. "We are pleased to receiveFDAclearance, providing surgeons an additional tool for the X andXi da Vinciplatforms," saidBob DeSantis, Intuitive's Senior Vice President and General Manager for Instruments and Accessories. "We developed SynchroSeal and the E-100 generator to help surgeons quickly seal and transect tissue and vessels, facilitating efficient technique."

Medtronic PLC (NYSE:MDT) and ChristianaCare announced a collaboration designed to improve outcomes for ChristianaCare patients in Delaware and the surrounding region. The five-year agreement will focus on developing and deploying value-based healthcare initiatives to help ChristianaCare apply the right medical technologies and therapies to patients who may benefit most, with shared financial accountability between ChristianaCare and Medtronic to improve patient outcomes while reducing the cost of care. "There's general consensus that a fee-for-service system is not sustainable, and a value-based system is the way to go, but 'how' becomes a question. We want to take that on, but transformation can only happen through collaboration with others with aligned views and aligned reward mechanisms," said Omar Ishrak, chairman and chief executive officer of Medtronic. "ChristianaCare's shared commitment to developing value-based healthcare initiatives makes them an ideal partner for Medtronic."

Abiomed Inc. (NASDAQ:ABMD) announced initiation of the ST-Elevation Myocardial Infarction Door-to-Unloading (STEMI DTU) Pivotal Randomized Controlled Trial (RCT), which will explore whether unloading the heart's left ventricle for 30 minutes with an Impella heart pumpprior to opening blocked arteries will reduce infarct size after a heart attack and lead to a reduction in future heart failure rates. The first patient in the multi-center trial was enrolled atSpectrum HealthinGrand Rapids, Michigan, byKevin Wolschleger, MD. The Impella CP heart pump will be used in the STEMI DTU randomized controlled trial, which will study unloading prior to reperfusion as a therapy to reduce heart failure risk. "We are honored to be the first to enroll in this important study which builds on earlier research that shows promise for slowing the growing epidemic of heart failure and improving outcomes for heart attack patients around the world." said Dr. Wolschleger, an interventional cardiologist atSpectrum Health. "Spectrum Health has one of the longest Impella experiences inthe United States, and we are proud and excited to be a part of this pivotal clinical trial that has the promise to bring this paradigm changing therapy to patients," saidDavid Wohns, MD, chief of cardiology atSpectrum Health.

Thermo Fisher Scientific Inc. (NYSE:TMO) officially opened its new$90 millionviral vector CDMO(contract development and manufacturing organization) site inLexington, Mass.The 50,000-square-foot facility will add more than 200 jobs and support the development, testing and manufacture of viral vectors, which are critical to advancing new life-saving gene and cell therapies globally."Thermo Fisher'sinvestment in both the regional economic development of the Commonwealth and its commitment to furthering STEM education for young women will well serveMassachusettsand its communities," said GovernorCharlie Baker. "We look forward to working together to continue to build upon and strengthen the state's role as a global leader in innovation."Earlier this year,Thermo Fishercompleted the acquisition ofBrammer Bio, adding this leading viral vector CDMO to its Pharma Services business.The newLexingtonsite provides much-needed capacity for viral vector development and manufacturing, which to date has been a bottleneck for biotech companies. This investment is part of a larger strategy to accelerate commercialization of new therapies by providing a range of services from drug development through clinical trials to commercial manufacturing to support pharma and biotechcompanies of all sizes. "The demand for new gene therapies has outpaced capacity, and we're in a unique position to partner with our customers to help them accelerate development and production of medicines that will ultimately benefit patients suffering from rare diseases," saidMichel Lagarde, executive vice president of Thermo Fisher Scientific. "We're also excited to create 200 new jobs that support the thriving biotech industry inMassachusetts."

DISCLAIMER: FN Media Group LLC (FNM), which owns and operates Financialnewsmedia.com and MarketNewsUpdates.com, is a third- party publisher and news dissemination service provider, which disseminates electronic information through multiple online media channels. FNM is NOT affiliated in any manner with any company mentioned herein. FNM and its affiliated companies are a news dissemination solutions provider and are NOT a registered broker/dealer/analyst/adviser, holds no investment licenses and may NOT sell, offer to sell or offer to buy any security. FNM's market updates, news alerts and corporate profiles are NOT a solicitation or recommendation to buy, sell or hold securities.The material in this release is intended to be strictly informational and is NEVER to be construed or interpreted as research material. All readers are strongly urged to perform research and due diligence on their own and consult a licensed financial professional before considering any level of investing in stocks. All material included herein is republished content and details which were previously disseminated by the companies mentioned in this release. FNM is not liable for any investment decisions by its readers or subscribers. Investors are cautioned that they may lose all or a portion of their investment when investing in stocks. For current services performed FNM was compensated thirty five hundred dollars for news coverage of current press releases issued by NexTech AR Solutions, by a non-affiliated third party. FNM HOLDS NO SHARES OF ANY COMPANY NAMED IN THIS RELEASE.

This release contains "forward-looking statements" within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E the Securities Exchange Act of 1934, as amended and such forward-looking statements are made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. "Forward-looking statements" describe future expectations, plans, results, or strategies and are generally preceded by words such as "may", "future", "plan" or "planned", "will" or "should", "expected," "anticipates", "draft", "eventually" or "projected". You are cautioned that such statements are subject to a multitude of risks and uncertainties that could cause future circumstances, events, or results to differ materially from those projected in the forward-looking statements, including the risks that actual results may differ materially from those projected in the forward-looking statements as a result of various factors, and other risks identified in a company's annual report on Form 10-K or 10-KSB and other filings made by such company with the Securities and Exchange Commission. You should consider these factors in evaluating the forward-looking statements included herein, and not place undue reliance on such statements. The forward-looking statements in this release are made as of the date hereof and FNM undertakes no obligation to update such statements.

Contact Information:email:editor@financialnewsmedia.com+1(561)325-8757

SOURCE Financialnewsmedia.com

Read the original post:
The Best Augmented Reality Stocks for 2020 - PR Newswire UK

Introduction

In Trump's 2019 State of the Union Address, the topic of eradicating HIV morphed into a campaign promise with HIV poster child Gilead (GILD) getting most of the accolades due to their advances in prevention drugs. Almost 9 months later (last month), the Trump administration reversed course and sued Gilead which means the position of "HIV poster child" is up for grabs again. Since Trump seems to have knocked the ball out of Gilead's hands, it's unclear if they will be able to repair the damage and reclaim their position or if a new company will rise to the occasion and become the newly anointed.

Trump's 2019 SOTU Address

During Trump's 2019 State of the Union Address, he has announced a strategy to stop the spread of HIV by 2030 by concentrating resources on hot spots where half the new infections occur. After the State of the Union details from the Secretary of Health and Human Services (HHS) Alexa M Azar II, who coordinated the plan, said that their goal was to focus on the 48 countries where half the infections occur and to reduce new infections by 75% along with ending the HIV epidemic in America. After the State of the Union, advocates like Dr. Anthony Facui, director of the National Institute of Allergy and Infectious Diseases, suggested an increase in antiretrovirals and prevention medicine at the Conference on Retroviruses and Opportunistic Infections (CROI). This increased emphasis on treatment was positive for HIV drugmakers like Johnson and Johnson (JNJ), Mylan (MYL), and Pfizer (PFE). Treatment and prevention stocks Gilead (GILD), GlaxoSmithKline (GSK), and Merck (MRK) received the biggest boost from the news, but this year, a new player with disruptive technology might be in the works. Which HIV company could be the biggest beneficiary from this Trump Administration and HHS initiative?

Trump's HIV Initiative

The architect of Trump's plan, Alex Azar, wrote an article after the State of the Union detailing how the Trump Administration and the Department of Health and Human Services are going to reach their goals using existing medicine in conjunction with pre-exposure prophylaxis (PrEP) medication. They are targeting resources to "geographic hotspots", which consists of 48 counties and some other areas and which constitute over 50% of new diagnoses in the United States. Their strategy can be summed up into "Diagnose, Treat, Protect, and Respond." Early detection is critical and getting people on the treatment regimen prevents transmission by keeping the viral loads in check. Additionally, people at risk of contracting HIV have new PrEP drugs like DESCOVY and TRUVADA made by GILD. Their response plan is to use CDC data to rapidly detect and treat growing HIV clusters to prevent new infections. If this model is successful they plan to roll it out on an international scale. The goal of the initiative is to "reduce new infections by 75 percent in the next five years and by 90 percent in the next ten years, averting more than 250,000 HIV infections in that span."

Trump's HIV Plan

The Past Year In Review

There have been many advancements in HIV treatment since this year's State of the Union address. A second patient, in addition to the famous decade-old case of Timothy Ray Brown, was cured of HIV. One drug manufacturer came out with a once a month injectable shot. CRISPR gene-editing technology was used to edit a stem cell implant aimed at curing HIV. Last but not least, a salvage therapy had over a 90% responder's rate with virtually no side effects. If history repeats itself, Trump will double down on his plan to defeat HIV, and unveil more details at the next State of the Union address in February 2020. The State of the Union address is well known for its impact on highlighting winners and losers among the presidential administration's initiatives. HIV is an anticipated winner again this year, but Gilead may not participate because tension has been on the rise between Gilead and the Trump administration. If HIV is mentioned at the State of the Union, it's expected the additional nuances of Trump's HIV plan will come to light the following month at the Conference on Retroviruses and Opportunistic Infections (CROI). This article speculates on some of the big HIV industry players.

The Trump administration, through the Department of Justice (DOJ), filed a patent infringement lawsuit on November 6, 2019 against Gilead seeking damages for patent protection. The Department of Health and Human Services had patents related to pre-exposure prophylaxis (PrEP) for HIV prevention. HHS asserted that GILD "willfully and deliberately induced infringement on the HHS patents." Due to the infringement, GILD allegedly profited from research funded by hundreds of millions of taxpayer dollars and reaped billions in revenues from PrEP through the sale of Truvada and Descovy.

Trump is very volatile, and compared to prior presidents, downright aggressive, so there is a chance that he goes on the attack during his State of the Union address against PrEP drug manufacturers that have taken advantage of the American people. Since PrEP was one of two pillars of Trump's plan, it's safe to say that his administration is now looking for another poster child. On the surface, Merck or GlaxoSmithKline would be the logical alternatives, but something possibly bigger is brewing in the HIV space, which is covered later in this article.

The amfAR Institute for HIV Cure Research is focused on a scientific basis for a cure by the end of 2020. They defined a functional cure as something that would end an individual's lifelong need for drug treatment to keep the virus in check. They identified four key challenges needed to develop a cure: pinpoint the precise locations of the latent reservoirs, determine how they are formed, persist and quantify the amount of virus in the reservoirs, and finally, eradicate them from the body. Gilead is a key partner in this collaboration.

There are many types of T-Cells, but only the CD4+ T-Cell can host the virus. The issue with the existing antiretroviral therapy (ART) is that they work in the blood to reduce the circulating virus, not the virus in the tissues. Only 3-5% of a person's CD4+ cells are circulating at any given time; the remainder are typically compartmentalized in a reservoir in organs such as the brain, lymph nodes, gut, and male/female reproductive tract. According to the MDPI Journal Gilead's planned mechanism of eradication is to use GS-9620, a TLR7 agonist, to force latent HIV from the virus's immune cell reservoir. Once released, broadly neutralizing antibody PGT121 would attach to it and clear it from the blood. This methodology is known as a shock and kill tactic and was presented at the 2018 CROI meeting. Tests in monkeys revealed that this approach delayed viral rebound following ART from 21 days in the control to a median rebound time of 112 days. In July, the company had a phase 1 readout that showed the drug was well tolerated with no Grade 3 or Grade 4 drug-related adverse events. Their finding was that "the results support studies in the potential role of Vesatolimod as part of combination regimens aimed at achieving ART-free control of HIV." The ART-free control verbiage, unfortunately, appears to be well short of a cure. This advance coupled with the patent infringement issue doesn't appear to have enough zest to make it on Trump's radar.

Merck (MRK) had a similar plan called "kick and kill" in which is used a cancer drug called Vorinostat as an activating agent to clear the body of its viral reservoir and get the immune system to respond using it innate immunity. In Merck's RIVER study, released in July 2018, 60 men who recently acquired HIV started ART and got their viral loads to undetectable levels and then received the "kick and kill." This consisted of Vorinostat and an anti-HIV vaccine. Results were very disappointing and showed that there was no impact on copies/mL compared to ART alone. It's important to note that the mice study was marginal in comparison to GILD's monkey study with GS-9620.

Merck is also developing a one-year subcutaneous implant. Anthony Fauci, the head of the National Institute of Allergy and Infection Diseases characterized "an implant for 1 year has enormous potential [...] that could be a game-changing advance." The drug is called MK-8591 or islatravir, and inhibits an enzyme that is needed for replication of HIV. Merck conducted a study in 12 uninfected people and measure the blood levels of islatravir 4 weeks after removal. In half of the cohort that received the higher dose, levels were so high that researchers were able to project that the release of the drug would be 12 - 16 months. No safety issues surfaced in the pilot study. The drug is entering phase 2 studies and has only dosed 12 people so the findings

Viiv Healthcare, the Pfizer and GSK owned HIV joint venture, also is testing cabotegravir in a phase 3 study as an intramuscular injection for the prevention of HIV infection. The phase 2 study results showed overall positive safety and tolerability data, where most patients favored the 12-week injection over pills over daily pills. Due to lower than expected exposure found in some patients in the phase 2 data, the phase 3 study will proceed with a lower dose and 6-week injections.

Almost two years ago, the Gilead PrEP news was extraordinary, but the news now pales in comparison to a group of 5 human patients that have not taken ART's for close to 5 years and have yet to experience a viral rebound that will be discussed later in the article.

Bioethics Observatory Institute of Life Sciences

Timothy Ray Brown, known as the "Berlin patient," was the first person ever cured of HIV, which happened over a decade ago. The second patient cured of HIV is known as the "London patient." Both patients had myeloid leukemia and had total body irradiation to wipe out their T-cells before receiving their stem cell transplant. In both cases, the donor had a genetic mutation - which therefore is present in the donated stem cells - known as a CCR5 delta 32 mutation. People that have the CCR5 delta 32 allele do not have CCR5 receptors on their T-Cells and as a result are immune to HIV. The "Berlin patient" inspired Dr. Monique Nijhuis, from the University Medical Center of Utrecht in the Netherlands to develop a protocol to transplant HIV resistant genes with the intention of eradicating HIV from the patient. The European consortium is analyzing the results of 39 patients who have received transplants from CCR5 delta 32 donors. Dr. Carl Dieffenbach, the director of AIDS research for the National Institute of Health also endorsed this approach at this year's CROI conference and indicated that another was to genetically engineer a patient's immune cells through gene therapy to knock out the CCR5 receptor which is part of HIV's pathway into the T-Cell.

Timothy Ray Brown, right, and Dr. Gero Htter, the Berlin cancer doctor who gave Brown a lifesaving transplant that also cured him of HIV. Photo by Robert Hood / Fred Hutch News Service

There have been 3 HIV vaccine trials for efficacy worldwide. In 2004, the VaxGen candidates failed to offer any protection and halted its phase 3 trial in 2004. Later in 2007, the Phambili study was stopped for safety concerns. An ongoing trial of HVTN100 and HVTN702 is part of a consortium that includes the US Military, the Bill and Melinda Gates Foundation, NIAID, HVTN, GlaxoSmithKline (GSK), and Sanofi Aventis (SNY). Even though vaccines have had a bumpy road, Dieffenbach believes that we could give "remission in absence of eradication." This means that a patient's immune system would be trained to block HIV whenever sleeping HIV infected cells awake, which would be accomplished via injection of HIV blocking antibodies. On a different note, Janssen, a division of JNJ, is enrolling up to 3800 participants in eight countries who will get four vaccine injections over the course of a year. This study, termed the Mosaico study, will vaccinate patients with three different HIV strains, hoping to offer benefit in 65% of the study population. Prophylactic treatment is an ultimate goal in fighting HIV, but it has been elusive because the virus evolves so rapidly that it's difficult to target.

Path Toward a Functional HIV Cure

To understand what a "functional cure" means, it is helpful to recap what exactly HIV is and how existing drugs are currently treating the disease. HIV is a virus that selectively targets a patient's white blood cells known as T-Cells. These T-Cells help fight infections in our body and kill viruses, but the HIV virus exploits a weakness on the surface of the T-Cell. When an HIV virus comes in contact with the CD4 receptor and the CCR5 co-receptor, the virus gains entry into the T-Cell where it can replicate. The current standard of care is called Highly Active Antiretroviral Therapy (HAART) and what it does is target the virus's ability to replicate once already inside the cell, to keep the "viral load" down. It is well understood that keeping the viral load under 50 copies/mL both effectively prevents transmission of the disease and keeps the disease at bay for the existing infectee.

Frontiers in Immunology

Entry/Fusion Inhibitors - Superior Mechanism of Action, But Toxic

The approach to HIV treatment since the advent of HAART has been to mess up the virus' plan to replicate once inside the cell, but in theory, there is a better way. Instead of letting the virus inside the cell, fusion inhibitors block the CCR5 co-receptor and keep the virus outside the cell. With entry/fusion inhibitor treatment the virus can still bind to the CD4 receptor, but it is unable to get close enough to the cell membrane since the CCR5 co-receptor is blocked. Thus, it can't enter the cell and therefore it is unable to replicate. Even more importantly, replication of a virus is what allows for mutation, which ultimately leads to drug resistance as is common with HAART treatment regimens. Historically, fusion inhibitors like Pfizer's maraviroc and Merck's vicriviroc have shown efficacy in keeping viral loads down. However, side effects related to their method of CCR5 inhibition have limited their usage. The effects are apparent as Merck terminated the development of vicriviroc in 2010 and maraviroc has a black box warning for hepatotoxicity.

Corporate Presentation

Next Generation Entry/Fusion Inhibitor - Non Toxic

CytoDyn Inc. (OTCQB:CYDY) has developed a monoclonal antibody CCR5 antagonist called leronlimab to treat HIV with virtually no side effects compared to the nausea, fatigue, and trouble sleeping that come with the HAART regimen. The drug has an impressive safety and efficacy profile. After 24 weeks of leronlimab therapy, 81% of patients had suppressed viral load compared to 43% from the last drug approved in the study's patient population. There were no drug-related Serious Adverse Events (SAEs), giving it one of the best safety profiles in the HIV landscape. Leronlimab also addresses patient compliance as a once-a-week injectable with a 72 hour grace period. The drug also has a fast-track designation and a rolling BLA and is in a position to ask for accelerated approval. It hit its primary endpoint in a pivotal phase 3 trial. They have a very favorable label request with one drug resistance in 3 classes or one drug resistance in 2 classes with limited treatment options. Approval could represent a$1.7 to $3.4 billion market within the first year of approval based on Biovid's Market Research. After expected approval, they plan to do a label expansion to switch to monotherapy maintenance.

Corporate Presentation

It's important to note that 565 leronlimab monotherapy patients have literally thrown away HAART, the standard of care, for close to a year. Five special patients have even been off the side effect heavy HAART 5 years, demonstrating leronlimab's considerable resilience to patients' developing drug resistance, attributable to the fact that leronlimab mostly prevents the virus from ever replicating. Leronlimab may prove to be a superior option over HAART for many patients.

The HAART standard of care, which leronlimab theoretically has the potential to disrupt, represents a >$15 billion franchise for GILD, but the leronlimab monotherapy patients are living ART-free and have complete control of their HIV. Contrast leronlimab's viral rebound data to GILD's GS-9620 animal study, which saw viral loads rebound in 112 days (less than 4 months). Patients in CytoDyn's monotherapy trial are essentially represented by the orange line in the Functional Cure graphic (a few graphics) above, and many patients could remain functionally cured without side effects for years to come, since CytoDyn doesn't have any strong evidence of viral rebounds yet.

Prevention in HIV is all about keeping the viral load under 50 copies/mL, which the FDA considers an undetectable level and incapable of spreading the disease. As a once a week injectable, PRO 140 (leronlimab) offers convenience to the patient, virtually no side effects, and essentially keeps the virus away from the T-Cells and unable to replicate. Here's a nice analogy: HIV is like having little piranha in your blood that only eats T-Cells. The HAART treatment lets the piranha eat the T-Cell but slaughters most but not all of its offspring. Leronlimab, on the other hand, puts a Teflon coating around the T-Cells so the piranha have nothing to eat, so they die from malnutrition.

In a prevention setting, if a person at risk is given leronlimab and exposed to the virus the theory is that the virus will be blocked from replicating and eventually defenses in the body will break it down. This theory might even be applied to patients diagnosed with HIV. If this is done long enough perhaps the virus will eventually break down. Esteban Hernandez-Vargas said that " latently infected resting memory CD4+ T cells are the only cell type in which it has been clearly demonstrated that replication-competent virus can persist for several years in patients." Some patients have been on leronlimab for close to 5 years and at some point, this group of patients would be ideal for that sort analysis to see if they have in fact been cured.

The Thai Red Cross AIDS research center is initiating a PrEP clinical trial in subjects at high risk of HIV infection. Leading scientific advisor Dr. Jonah Sacha is conducting the research and CytoDyn has a Memorandum of Understanding with the Tai Red Cross to develop the HIV PrEP clinical trials. Sacha will also oversee the PrEP cure developments. Supporting PrEP and cure initiatives is the independent leronlimab data from the PRESTIGO Registry Study Group, which is to be presented at CROI. The people in this study are heavily treatment-experienced (HTE) patients that averaged at least 4-classes of drug resistance. The group of patients in this PrEP study are actually less sick than in the leronlimab phase 3 groups, where leronlimab managed to yield a whopping 90% responders rate. The PrEP responders rate to be announced at CROI might be very high. If the majority of HIV positive patients have no side effects, cannot transmit the disease, and has a fully functional immune system, this could be considered a functional cure, allowing Trump to claim a big win.

Throughout the article, little seeds have been planted to accentuate the case for a new player in HIV, who has a disruptive technology, backed by data on long term patients, who possibly could be cured with a drug that has little to no side effects. The CytoDyn story, once again, could be "too good to be true." However, the company is weeks away from a planned BLA submission that will result in a planned drug approval by June 2020, based on its rolling BLA and fast track status. In September, CytoDyn signed a non-binding licensing deal for $90 million from a major distributor. Once the drug is approved, the company has Samsung Biologics ready to provide them with up to $1.0 billion of inventory, based on anticipated drug prices, to meet the expected demand. CytoDyn also signed with distribution partners ready to market the drug. The pieces are in place for CytoDyn to start bringing in billions in revenue next year, except for one key thing. The company needs about $20 to $25 million to fund its operating costs while they are waiting for BLA approval over the next 6 months. This need for either a licensing deal or some type of financing seems to be dampening the enthusiasm for the technology as market participants await closure on financing terms or a licensing deal. It's been eerily quiet in the past two months because no big pharma company has made an even an overture toward what could be the most disruptive technology in the HIV space.

A Gilead investor might consider hedging his bets with the biggest threat in the HIV space. In a worst-case scenario for this investor, nothing happens and CytoDyn doesn't become a political football, then the investor can unwind the hedge after the CROI meeting. If something does happen then the hedge could be wildly profitable and even cover multiple situations included the licensing of the technology by a competitor. In all likelihood, the Trump lawsuit against Gilead could be much ado about nothing, as are most political events. However, can investors ignore 565 patients that were able to throw away their daily HAART regimen and defy big pharma? A 95% responder rate with prolonged remission and favorable safety is good enough to ignite a patient advocacy revolution, and as an investor, you don't want to be caught on the wrong side of the trade.

There are a lot of theories floating out there about how to cure HIV and how to deal with the HIV epidemic. The big picture is that Trump seems stalwart in his approach about eradicating HIV, but therein lies the opportunity. The challenge to investors in the coming months leading up to the State of the Union is figuring out which horse is he going to back. Gilead is the largest HIV drug maker in the world and was the golden child in HIV until the Trump lawsuit hit. This lawsuit should serve notice to GILD investors that they have been targeted by Trump. There is a body of evidence to suggest that CytoDyn has the goods to be crowned the new innovator in HIV. It's definitely a long shot that Trump would elevate a $120 million market cap company as the frontrunner, but it is possible.

The most likely scenario would be Merck and ViiV jockeying for position in their efforts to get top billing and dethrone Gilead. Both of them could potentially negotiate with the administration, but its not clear which company might have the best strategy for PrEP. Whoever is perceived to have the inferior PrEP solution may be forced to seek a license from another PrEP drug maker; however, they would need a drug asset close to approval. Fortunately for CytoDyn, leronlimab approval is only about 6 months away, and if the technology is as robust as presented in this article, a licensee (Merck or ViiV) and CytoDyn could cobble together a viable PrEP program in months and then file for a label expansion.

If Gilead gets wind of this strategy, they might try to play "spoiler", which would be a great outcome for CytoDyn. Regardless, the bottom line is that Trump hit Gilead hard, and they could be on the ropes in the PrEP race. The question for investors is: does Gilead wake up in time to fight back, or does Merck, ViiV, or possibly a CytoDyn collaboration with one of them knock Gilead out?

Disclosure: I am/we are long CYDY. I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it (other than from Seeking Alpha). I have no business relationship with any company whose stock is mentioned in this article.

Editor's Note: This article covers one or more microcap stocks. Please be aware of the risks associated with these stocks.

Read the original here:
The Politics Of HIV - The Political Football Has Been Fumbled - Seeking Alpha

Dec. 12, 2019 06:05 UTC

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)-- Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced new data from the Phase III FeDeriCa study which showed the investigational fixed-dose combination (FDC) of Perjeta (pertuzumab) and Herceptin (trastuzumab) with hyaluronidase, administered by subcutaneous (SC) injection in combination with intravenous (IV) chemotherapy, demonstrated non-inferior levels of Perjeta in the blood (pharmacokinetics) and comparable efficacy and safety to standard IV infusions of Perjeta plus Herceptin and chemotherapy in eligible people with HER2-positive early breast cancer (EBC).

These new data, from a primary analysis of the FeDeriCa study, will be presented in a spotlight session (Abstract #PD4-07) at 7:00 a.m. CST today at the 2019 San Antonio Breast Cancer Symposium (SABCS).

SC administration of the FDC takes approximately eight minutes for the initial loading dose and approximately five minutes for each subsequent maintenance dose. This is compared to approximately 150 minutes for infusion of a loading dose of Perjeta and Herceptin using the standard IV formulations, and between 60-150 minutes for subsequent maintenance infusions of the two medicines.

This fixed-dose subcutaneous combination has the potential to provide a quicker and less invasive method of administration for people with HER2-positive breast cancer being treated with Perjeta and Herceptin, said Levi Garraway, M.D., Ph.D., chief medical officer and head of Global Product Development. This is the first time that we have brought together two of our targeted antibodies as a single subcutaneous injection that can be administered in just minutes.

The FeDeriCa study met its primary endpoint, with SC administration of the FDC showing non-inferior levels of Perjeta in the blood during a given dosing interval (Ctrough) when compared to IV administration of Perjeta. The geometric mean ratio (GMR, a type of average used when assessing pharmacokinetics) for the primary endpoint was 1.22 (90% CI 1.14-1.31) with the lower limit of the 90% CI of the GMR=1.140.80 (the pre-specified non-inferiority margin). A secondary endpoint of non-inferior Ctrough of Herceptin was also met, with blood concentrations for people receiving the FDC non-inferior to those receiving IV Herceptin (GMR=1.33 [90% CI 1.24-1.43]; lower limit of 90% CI of GMR=1.240.80). A non-inferiority endpoint was chosen for the study to ensure that people were receiving sufficient dosing with Perjeta and Herceptin as compared to the established IV doses at the same treatment intervals. In addition, rates of total pathological complete response (pCR), a secondary endpoint, were comparable between the treatment arms, with 59.7% of patients receiving the FDC and 59.5% of patients treated with IV Perjeta and Herceptin achieving a total pCR a difference of 0.15% (95% CI -8.67-8.97).

The safety profile of the FDC in combination with chemotherapy was comparable to that of IV administration of Perjeta plus Herceptin and chemotherapy, and no new safety signals were identified, including no meaningful difference in cardiac toxicity. The most common adverse events in both arms were alopecia, nausea, diarrhea and anemia.

In previous studies, SC administration has been shown to be strongly preferred by the majority of patients compared to IV administration of the same medicine, with the most common reason being that administration required less time in the clinic. In the PHranceSCa study, Genentech is currently investigating patient preference for SC administration of the FDC compared to standard IV administration of Perjeta and Herceptin in people with HER2-positive EBC. Interim results of this Phase II study will be presented at a future medical meeting.

About the FeDeriCa study

FeDeriCa is an international, multicenter, two-arm, randomized, open-label, Phase III study evaluating the pharmacokinetics, efficacy and safety of SC injection of the FDC of Perjeta and Herceptin in combination with chemotherapy, compared with standard IV infusions of Perjeta and Herceptin in combination with chemotherapy in 500 people with HER2-positive EBC who are being treated in the neoadjuvant (before surgery) and adjuvant (after surgery) settings. The primary endpoint of the study is minimum levels of Perjeta in the blood during a given dosing interval (Ctrough). Secondary endpoints include safety; minimum levels of Herceptin in the blood during a given dosing interval (Ctrough); and total pCR, meaning there is no tumor tissue detectable in the tissue removed at the time of surgery. The safety profile of Perjeta and Herceptin FDC was comparable with that of Perjeta and Herceptin administered intravenously.

About HER2-positive breast cancer

Breast cancer is one of the most common cancers among women worldwide. According to the American Cancer Society, approximately 271,000 people in the United States will be diagnosed with breast cancer, and more than 42,000 will die from the disease in 2019. Breast cancer is not one, but many diseases based on the biology of each tumor. In HER2-positive breast cancer, there is excess HER2 protein on the surface of tumor cells. Approximately 15-20% of breast cancers are HER2-positive based on the result of a diagnostic test.

About the FDC of Perjeta and Herceptin

The FDC of Perjeta and Herceptin is a new SC formulation that combines Perjeta and Herceptin with Halozyme Therapeutics Enhanze drug delivery technology.

Trastuzumab in the FDC is the same monoclonal antibody as in IV Herceptin and pertuzumab in the FDC is the same monoclonal antibody as in IV Perjeta. The mechanisms of action of Perjeta and Herceptin are believed to complement each other as both bind to the HER2 receptor, but in different locations. The combination of Perjeta and Herceptin is thought to provide a more comprehensive, dual blockade of the HER signaling pathways.

Halozymes Enhanze drug delivery technology may enable and optimize SC drug delivery for appropriate co-administered therapeutics. The technology is based on a proprietary recombinant human hyaluronidase PH20 (rHuPH20), an enzyme that temporarily degrades hyaluronan a glycosaminoglycan or chain of natural sugars in the body, to aid in the dispersion and absorption of other injected therapeutic drugs.

Current Perjeta and Herceptin IV Indication Statements and Important Safety Information

Perjeta Indication Statements

Perjeta (pertuzumab) is a prescription medicine approved for use in combination with Herceptin (trastuzumab) and chemotherapy for:

Perjeta (pertuzumab) is a prescription medicine approved for use in combination with Herceptin (trastuzumab) and docetaxel in people who have HER2-positive breast cancer that has spread to different parts of the body (metastatic) and who have not received anti-HER2 therapy or chemotherapy for metastatic breast cancer.

Important Safety Information

Side effects with Perjeta

Most serious side effects of Perjeta

Perjeta may cause heart problems, including those without symptoms (such as reduced heart function) and those with symptoms (such as congestive heart failure).

Receiving Perjeta during pregnancy can result in the death of an unborn baby and birth defects.

Other possible serious side effects

Most common side effects

The most common side effects of Perjeta when given with Herceptin and chemotherapy as part of an early breast cancer regimen before surgery are:

Side effects may vary based on chemotherapy regimen.

The most common side effects of Perjeta when given with Herceptin and chemotherapy as part of an early breast cancer regimen after surgery are:

The most common side effects of Perjeta when given with Herceptin and docetaxel for treatment of breast cancer that has spread to other parts of the body (metastatic) are:

Patients are encouraged to report side effects to Genentech and the FDA. Report side effects to the FDA at (800) FDA-1088 or http://www.fda.gov/medwatch. Report side effects to Genentech at (888) 835-2555.

Patients should talk to a healthcare professional for more information about the benefits and risks of Perjeta.

Please see the Perjeta full Prescribing Information for additional Important Safety Information, including most serious side effects, at http://www.perjeta.com.

Herceptin Indication Statements

Adjuvant Breast Cancer

Herceptin is approved for the treatment of early-stage breast cancer that is Human Epidermal growth factor Receptor 2-positive (HER2+) and has spread into the lymph nodes or is HER2-positive and has not spread into the lymph nodes. If it has not spread into the lymph nodes, the cancer needs to be estrogen receptor/progesterone receptor (ER/PR)-negative or have one high-risk feature.* Herceptin can be used in several different ways:

Patients are selected for therapy based on an FDA-approved test for Herceptin.

*High risk is defined as ER/PR-positive with one of the following features: tumor size greater than 2 cm, age less than 35 years, or tumor grade 2 or 3.

Metastatic Breast Cancer

Herceptin has two approved uses in metastatic breast cancer:

Patients are selected for therapy based on an FDA-approved test for Herceptin.

Important Safety Information

Possible serious side effects with Herceptin

Not all people have serious side effects, but side effects with Herceptin therapy are common.

Although some people may have a life-threatening side effect, most do not.

A patients doctor will stop treatment if any serious side effects occur.

Herceptin is not for everyone. A patient should be sure to contact their doctor if they are experiencing any of the following:

HEART PROBLEMS

These include heart problemssuch as congestive heart failure or reduced heart functionwith or without symptoms. The risk for and seriousness of these heart problems were highest in people who received both Herceptin and a certain type of chemotherapy (anthracycline). In a study of adjuvant (early) breast cancer, one patient died of significantly weakened heart muscle. A patients doctor will check for signs of heart problems before, during, and after treatment with Herceptin.

INFUSION REACTIONS, including:

These signs usually happen within 24 hours after receiving Herceptin.

A patient should be sure to contact their doctor if they:

Are a woman who could become pregnant, or may be pregnant

Herceptin may result in the death of an unborn baby or birth defects. Contraception should be used while receiving Herceptin and for seven months after a patient's last dose of Herceptin. If a patient is or becomes pregnant while receiving Herceptin or within seven months after their last dose of Herceptin, the patient should immediately report Herceptin exposure to Genentech at (888) 835-2555.

Have any signs of SEVERE LUNG PROBLEMS, including:

A patients doctor may check for signs of severe lung problems when he or she examines the patient.

Have LOW WHITE BLOOD CELL COUNTS

Low white blood cell counts can be life threatening. Low white blood cell counts were seen more often in patients receiving Herceptin plus chemotherapy than in patients receiving chemotherapy alone.

A patients doctor may check for signs of low white blood cell counts when he or she examines the patient.

Side effects seen most often with Herceptin

Some patients receiving Herceptin for breast cancer had the following side effects:

A patient should contact their doctor immediately if they have any of the side effects listed above.

Patients are encouraged to report side effects to Genentech and the FDA. Report side effects to the FDA at (800) FDA-1088 or http://www.fda.gov/medwatch. Report side effects to Genentech at (888) 835-2555.

Patients should talk to a healthcare professional for more information about the benefits and risks of Herceptin.

Please see the Herceptin full Prescribing Information for additional Important Safety Information, including most serious side effects, at http://www.herceptin.com.

About Genentech in breast cancer

Genentech has been advancing breast cancer research for more than 30 years with the goal of helping as many people with the disease as possible. Our medicines, along with companion diagnostic tests, have substantially improved outcomes for HER2-positive breast cancer. As our understanding of breast cancer biology rapidly improves, we are working to identify new biomarkers and approaches to treatment for other subtypes of the disease, including triple-negative and hormone receptor-positive.

About Genentech

Founded more than 40 years ago, Genentech is a leading biotechnology company that discovers, develops, manufactures and commercializes medicines to treat patients with serious and life-threatening medical conditions. The company, a member of the Roche Group, has headquarters in South San Francisco, California. For additional information about the company, please visit http://www.gene.com.

View source version on businesswire.com: https://www.businesswire.com/news/home/20191211006028/en/

View post:
Genentech's Fixed-dose Subcutaneous Combination of Perjeta and Herceptin Comparable to Intravenous Formulations in People With HER2-positive Breast...

By Michele Munz, St. Louis Post-Dispatch

Amy Chastain didnt think she would be able to be a mom. She didnt think her child would be born with the same debilitating disease as her.

She didnt think she would live long enough to see this day, when a drug could change her life and most importantly, her sons.

At age 40, Chastain is pushing the limits. The average life expectancy for someone with cystic fibrosis is 41. Chastain had a serious scare two years ago, when she spent more than a month in the hospital because she got so ill. She needed a feeding tube and oxygen tank. She faced the need for a lung transplant.

A breakthrough drug was approved Oct. 21 for 90% of teen and adult patients with cystic fibrosis, a genetic life-threatening disease that causes thick mucus to build up in the lungs and other organs. The drug Trikafta is the first therapy to show dramatic improvement in lung function for a majority of those with the disease.

Knowing the drug showed promising results in studies, families had been waiting anxiously for months for approval by the federal government, which came faster than expected.

Today marks a tremendous breakthrough and exciting news for people with cystic fibrosis, said Dr. Preston Campbell, president of the Cystic Fibrosis Foundation. This milestone is the result of an extraordinary community coming together against great odds, and we are overjoyed that this will mean more people will have effective treatments for their disease.

Chastain began taking the pill a few weeks after it was approved, and within three days, she said she already felt better. After her morning treatments to clear the mucus that settles in her lungs overnight, she had little to cough up.

She has more energy. Shes able to make her bed, keep her wood floors clean and walk to her car without getting winded and having to take breaks.

I read that it takes effect that quickly, but I didnt believe it, Chastain said. But it is. Its been amazing.

Her son, Kyler, is now 14. Having religiously spent his life doing the breathing treatments that can take two to three hours every day, his lungs are still strong.

At his next appointment with a specialist at St. Louis Childrens Hospital in January, they will begin the process of getting Trikafta for him, too.

While the long-term effects are unknown, the hope is that the drug will help slow the progressive damage of the disease.

Its very exciting to think that he hopefully wont ever get as sick as I am, Chastain said. As a mother, you just cant put in to words what that means to me, that he wont have to go through everything that I have. Hopefully, hell just be able to live a long, healthy life.

But theres more to her story, she says. She might not have become a mom if not for a mistake in her husbands genetic test. Because of the mistake, they falsely believed their child would not be born with cystic fibrosis.

I dont know what happened or why, but Im thankful because, while it took a while to get over my anger, I cant imagine not having Kyler, Chastain said. For whatever reason, he is meant to be here, he is meant to have CF.

Her anger turned to thankfulness, she said, and now its turned to hope.

A verty different time

More than 30,000 people suffer from CF in the United States, with 70,000 affected worldwide according to the Cystic Fibrosis Foundation. In Missouri and Illinois, newborn screening tests show about one in 3,500 babies are born with CF, said Dr. Thomas Ferkol, pediatrics professor at Washington University School of Medicine.

Its considered to be a rare or orphan disease, but its one of the more common inherited diseases, Ferkol said.

In people with CF, mutations in a regulator gene cause a defect in the cells covering surfaces of the body the skin, airways, blood vessels and organs. The cells cant maintain their balance of salt and water, causing mucus in various organs to become thick and sticky.

It leads to damage and ultimately, the destruction of organs, Ferkol said.

In the lungs, mucus clogs the airways and traps germs, leading to infections and other complications. Other problems include decreased sweating, digestive problems, poor growth, diabetes and infertility.

Doctors have treated the disease by addressing the symptoms taking drugs to loosen the mucus, using airway clearing devices several times a day and taking supplements to replace pancreatic enzymes.

Trikafta directly addresses the salt-water imbalance by improving the function of defective proteins. It is the first drug to do so in CF patients with the most common gene mutation 90% have at least one copy of the mutation.

A similar drug, Kalydeco, was approved eight years ago, but it worked in only 8% of patients; and the improvements are not as dramatic.

A study of 403 patients for six months (some taking the drug and some taking a placebo) showed Trifakta normalized chloride levels in sweat, improved lung function by 14% and increased body mass.

A small number of patients participated in the study through Washington University, and though doctors did not know who was receiving the drug or placebo, it was obvious, said pulmonary disease specialist Dr. Daniel Rosenbluth. Other severely ill patients have been able to get early access to the drug.

They feel like they are totally different people, Rosenbluth said. I had a man whose wife kept waking him up at night because he was sleeping soundly and his wife thought he was dead.

Because results were so swift and dramatic, doctors have for nearly a year been telling their patients that a promising drug was coming.

We would tell families, OK, get ready, because we are entering a very different time, Ferkol said.

The Food and Drug Administration reviewed and approved Trifakta in just three months.

Doctors attribute the success to the Cystic Fibrosis Foundation, which over 20 years ago began working with a network of academic centers and organized patients for research studies. This made it quicker and easier for pharmaceutical companies to test drugs in development.

Other rare diseases have been trying to duplicate this model, Rosenbluth said.

The drug, made by Boston-based Vertex Pharmaceuticals, comes with a hefty price tag $311,000 a year. Patients are now wading through the process of seeking coverage through their public or private health insurance.

Keeping up hope

Patients still must continue their daily treatment regimens while taking the new pill, Ferkol stressed. The drug has been studied for only a short time, but the hope is that the drug greatly slows the progression of the disease over ones lifetime.

When Ferkol was a resident doctor in 1985, the life expectancy for a patient with CF was just 23 years old, he said.

This drug is opening up all kinds of possibilities I never dreamed to imagine when I was much younger, Ferkol said. If you can intervene early, before damage has occurred, can that profoundly change the trajectory of the disease? Its going to be a very exciting time.

While its not a cure, it is a drug families and doctors have long been waiting for. Studies are already underway in children ages 6 to 11.

Many families have hoped for a day that we could have something we could do for their children that is going to have the effect that this drug has, Ferkol said.

Hannah Krumrey, 20, of St. Charles, Missouri, is waiting on her insurance to approve her application for the drug; while her older sister, Kayla Krumrey, 21, was able to get the drug early and has already been able to sleep through the night and have more energy to get through the day.

The sisters recently went to Greece, and they hope to be able to travel more together.

Their father died a year ago. Hannah Krumrey wishes she could celebrate the drugs approval with him.

We know how happy he would be. This was like, his dream. This was all he ever wanted, she said. He will still be happy from up there, but I wish he was here to experience it with us.

Hes a blessing

Because Chastains symptoms were not yet severe when she was in her 20s, doctors thought she could safely have a child. But she feared passing on her disease.

A person with CF inherits a faulty gene from both mom and dad. If a person inherits one faulty gene and one normal gene, the person will not have symptoms but is a carrier.

Chastain and her husband decided he would get tested to see if he was a carrier. They were overjoyed when it came back negative, she said.

After two miscarriages, Kyler was born. His newborn screening, which is not always accurate, did not show he had CF.

His bowels were greasy, however, which is a sign of the disease. Chastains concerns grew, and when Kyler was 2 years old, tests confirmed he had CF. Chastain said she was devastated.

I thought I had done everything I was supposed to do to prevent the possibility, she said. I was really mad.

Chastain had watched others in her family suffer worse than she did from the disease, and it frightened her.

I was scared for him. I didnt want that life for him, she said. I didnt know what his disease would be like.

Chastain tried to figure out why her husbands test was negative. She asked to see the results. The hospital, however, said the system showed the couple was a no show the day of the test.

She did not want to identify the hospital.

God couldve stepped in. I dont know, she said. I just know hes a miracle. Hes a blessing. No one is to blame.

Chastain calls her son an outdoor kid. He loves playing basketball, hunting, fishing and riding four-wheelers. At 5 feet, 9 inches tall and 150 pounds, no one would know hes sick.

Chastain says he doesnt talk about stuff, but she can tell he gets worried when shes sick.

After seeing her do better on the new drug, Chastain said Kyler asked her if he would feel different too when he starts taking it.

Hopefully, she told him, it will just keep you feeling the way you do now.

Kyler then asked if she could go hunting with them when she feels better.

The Cystic Fibrosis Foundation is not resting. Just nine days after the new drug was approved, the foundation unveiled its Path to a Cure plan challenging scientists around the world to submit proposals that would accelerate finding a cure and allocating half a billion dollars to fund the research through 2025.

Distributed by Tribune Content Agency, LLC

Read the original here:
New drug appears to slow effects of cystic fibrosis, offering hope to long-suffering patients - Pocono Record

An increasingly common question I get asked is, Will gene testing help my doctor know which antidepressant to prescribe? Popular tests such as GeneSight suggests that they can shorten your road to recovery and how you, as an individual, will respond to specific antidepressant medications.

Does drug-gene testing, also referred to as pharmacogenomics or pharmacogenetics, work? And if so, does it only work for certain types of medications? Lets find out.

The idea of gene-drug testing is pretty simple. By testing your DNA, companies hope to be able to predict your response (or likely non-response) to specific types of antidepressants. Its also being marketed for a number of other diseases and medications.

Just a year ago, GeneSight had some pretty strong marketing language on its site. The company was strongly suggesting its test could help your doctor choose the best antidepressant for you:

Fortunately, the GeneSight genetic test can provide doctors answers that quickly lead to relief. Pharmacogenomic testing helps empower your doctor with the exact information needed to prescribe you the best medication for you. By examining how your DNA responds to specific medications such as antidepressants, this simple, painless test lets doctors know which medications may not work for you, so you can get back to feeling like yourself again. [] Through pharmacogenomic testing, your doctor can identify the correct medication and create a personalized treatment for you.

In the 2018 announcement of its own antidepressant test, another gene-drug testing company called Color says it now analyzes a number of these genes, starting with two that can impact your response to certain mental health medications like Zoloft, Paxil, and Lexapro. The blog entry cites seven research studies, but none of them have anything to do with antidepressants.

Few genetic researchers feel as positive about the current usefulness of gene-drug testing than companies marketing these tests. The American Psychiatric Associations research council reviewed the evidence last year and found that such genetic testing is not really ready for mass consumption.

Greden et al. (2019) looked at using pharmacogenomics directly to help in depression treatment. Because the researchers didnt find a significant difference (either statistically or clinically) in their primary outcome measure, they instead emphasized the statistical significance they found in two of the 25 secondary outcome measures they examined.

In treatment research, scientists increasingly use a statistic called Number Needed to Treat (NNT) that allows for cross-comparisons of the real-world efficacy of different kinds of treatment. The National Institute for Clinical Excellence (NICE) in the UK recommends that for a treatment to be clinically significant, the NNT should be in the single digits.

According to a critique of the researchers (Goldberg et al., 2019), the Greden study had an NNT of 17 for a response to an antidepressant and an NNT of 19 for remission of a depressive episode. Not exactly powerful numbers. In fact, combined with the non-significance of the primary outcome studied, Greden ironically demonstrated that pharmacogenomics doesnt appear to very good at its primary goal of helping to guide antidepressant treatment.

In short, the science today doesnt support the mainstream use of these tests for antidepressants.

Personalized medicine is the new New Thing marketed by anyone who has access to a DNA lab. The problem is that the marketing of gene-drug testing far overshadows the science. In early 2019, the U.S. Food and Drug Administration updated its guidance on gene-drug testing:

[The] FDA is aware of genetic tests that claim results can be used to help physicians identify which antidepressant medication would have increased effectiveness or side effects compared to other antidepressant medications. However, the relationship between DNA variations and the effectiveness of antidepressant medication has never been established. []

Do not change or stop taking any medicine based on a report from a genetic test you took on your own. []

[And to doctors:] If you are using, or considering using, a genetic test to predict a patients response to specific medications, be aware that for most medications, the relationship between DNA variations and the medications effects has not been established.

Goldberg et al. (2019) said it best:

[Researchers] have noted that commercial [] test manufacturers promote their products with a zeal that is disproportionate to the existing evidence base particularly when marketing to the lay public and clinicians who are likely unfamiliar with the limited statistical power of candidate gene association studies.

Youd be wasting your money by purchasing one of these tests in hopes of getting better results from your antidepressant treatment. The science simply doesnt support use of these tests at this time.

Online health information isnt always accurate on this issue even from trusted sources. For instance, the Mayo Clinic suggest these tests can help, but its unclear whether the anonymous, unlisted author of that article has examined the primary research (as there are no research references listed in the article). Harvard Health Publishing, on the other hand, got it right by noting that the research of gene-drug testing showed no evidence of effectiveness.

Someday, the hope is that pharmacogenetics may meaningfully inform treatment decisions, as it does in oncology. But were not yet there.

References

Goldberg, J.F., Rosenblat, J.D., McIntyre, R.S., Preskorn, S.H., de Leon, J. (2019). Letter to the Editor: Clinical versus statistical significance of pharmacogenomic-guided antidepressant therapy: Whats really being measured and marketed? Journal of Psychiatric Research, 114, 208-209.

Greden, J.F., Parikh, S.V., Rothschild, A.J., et al. (2019). Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: a large, patient-and rater-blinded, randomized, controlled study. J. Psychiatr. Res. 111, 5967. https://doi.org/10.1016/j.jpsychires.2019.01.003

Related Articles

Read more:
Gene Testing for Antidepressants & Psychotropics: Not There Yet - PsychCentral.com

The public called it bubble boy disease. Until recently, any infant born with this rare genetic disordera mutation called severe combined immunodeficiency (SCID-X1), linked to the X chromosomehad little chance of surviving outside a small, sterile environment. Brian Sorrentino, a hematologist and gene therapy researcher at St. Jude Childrens Research Hospital in Memphis, Tennessee, made it his lifes mission to cure this disease.

Sorrentino died at 60 in November 2018, before the groundbreaking results of the first trial were published in The New England Journal of Medicine. As a teenager, Sorrentino had been treated for Hodgkins lymphoma, with heavy doses of radiation. This led to various other ailments later in life, including heart disease and then terminal lung cancer.

He felt like there was a reason that he was saved at 17, says his widow, Suzanne Sorrentino, who also lost her first husband to lung cancer. The work he did to save patients with bubble boy disease was it.

The team thats now carrying on Sorrentinos work at St. Jude won the 2019 Smithsonian magazine American Ingenuity Award in the life sciences category. We spoke with his widow to learn more about the man who started it all. A condensed interview is below.

Can you tell us a bit about your husbands background and what brought him to St. Jude?

Brian was from New York. His dad was a radiologist, and he thought being a doctor would be the greatest profession in the world. After medical school, he worked at the National Institutes of Health with Dr. Arthur Nienhuis. When Dr. Nienhuis came to Memphis to be the head of St. Jude, Brian came with him. That was in 1993. It took Brian some time to adjust to the South. During the years I knew him, we were still working on getting him to say yall instead of you guys.

He was divorced, and the father of two grown children, when I met him just over five years ago. Id never met a scientist before. I told him, I just picture you in a lab coat looking at a microscope all day. He told me that was part of it, but it was a lot more than that.

Was he able to experience the joy of seeing his work on SCID-X1 come to fruition?

Oh, yes. When they got started with the trial, he was so excited. He and [fellow St. Jude researcher Dr.] Ewelina [Mamcarz] were just giddy when they had some children enrolled.

Its one thing to be in your lab and think youve got it. But to go over and see the child and see the parents who are just desperate, it made it real. He said some of the greatest days to him were when he got to leave his lab, his part of St. Jude, and go over where the patients are.

When Brian died, they had treated 10 patients, and theyd come from all over the world. In one of my favorite pictures of him, hes holding one of the children and hes got the biggest smile on his face.

Whats it like to watch the legacy of his work unfold and get celebrated?

Its bittersweet. Brian would say, Recognition is really nice, but its not important. Whats important is the science and saving these children. He didnt live to see the paper about the trial published in the New England Journal of Medicine, but he did know that it had been accepted.

When the paper came out in April, there was so much hubbub about it. The St. Jude PR department was just overwhelmed. They thought it would be big, but not as big as it turned out to be. I think Brian would have been a little embarrassed. St. Jude had a symposium to honor Brian and one of his colleagues in June. It was really lovely, but I just think, Damn it, he should be here!

Beyond scientific research, what were some of Brians other passions?

He played guitar. At a big, nice, fancy St. Jude dinner, with everybody all dressed up, he got up onstage and played Mustang Sally with the band that was performing. He was so nervous. I got so sick of that song. Hed played it a thousand times before the dinner because he didnt want to mess up in front of his colleagues.

He loved the Grateful Dead, which I never understood. I went to four Grateful Dead concerts with him, and told him, You owe me. This music is awful. I like music that has a beginning and an end. He would try to explain how wonderful it was. We buried him in a Jerry Garcia T-shirt.

He also loved his Corvette. He drove it on weekends, and that was his fun car. He had a Volkswagen that he would drive to work that he called his beater. He would get in that beater and drive like he was 85 years old. Hed get in his Corvette and go 100 miles an hour. At the symposium St. Jude had to honor him, everybody who spoke, including the head of the hospital, got up and had some horror story of riding with Brian in his Corvette.

He was just witty and wonderful. And there was a whole new world for me when I met him.

Read the original:
Honoring the Legacy of Brian Sorrentino | Innovation - Smithsonian.com

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced new data on two investigational CD20-CD3 T-cell engaging bispecific antibodies, mosunetuzumab and CD20-TCB, in people with relapsed or refractory (R/R) B-cell non-Hodgkins lymphoma (NHL). Results from the Phase I/Ib GO29781 study of mosunetuzumab, including data from people previously treated with chimeric antigen receptor (CAR) T-cell therapy, will be presented at the 61st American Society of Hematology (ASH) 2019 Annual Meeting during the Plenary Scientific Session. The Plenary Scientific Session highlights the top six abstracts submitted to the meeting, as determined by the ASH Program Committee. Additionally, results from the Phase I/Ib NP30179 study evaluating CD20-TCB as a combination therapy with Gazyva (obinutuzumab) for people with R/R NHL, will be presented.

Despite recent treatment advancements, slow-growing and aggressive non-Hodgkins lymphomas present increasingly difficult management challenges with each subsequent relapse, said Levi Garraway, M.D., Ph.D., chief medical officer and head of Global Product Development. Were encouraged by these early results, which suggest that our novel bispecific cancer immunotherapies may help people with relapsed or treatment-refractory disease who need more options.

The GO29781 study evaluated mosunetuzumab in patients with R/R NHL, including patients who have relapsed following, or are resistant to, CAR T-cell therapy a patient population with limited treatment options. Results from this dose-escalation study showed encouraging efficacy with an objective response rate (ORR) of 62.7 percent (n=42/67) in slow-growing NHL and 37.1 percent (n=46/124) in aggressive NHL. Additionally, data demonstrated a complete response (CR) rate of 43.3 percent (n=29/67) in slow-growing NHL and 19.4 percent (n=24/124) in aggressive NHL. CRs showed durability, with 82.8 percent (n=24/29) of patients with slow-growing NHL remaining in remission up to 26 months off initial treatment and 70.8 percent (n=17/24) of patients with aggressive NHL, remaining in remission up to 16 months off initial treatment. Of the participants who received prior CAR T-cell therapy, the ORR was 38.9 percent (n=7/18), and 22.2 percent (n=4/18) achieved a CR. Adverse reactions included cytokine release syndrome (CRS) in 28.9 percent of patients with 20.0 percent at Grade 1 and 1.1 percent at Grade 3. Grade 3 neurological adverse events occurred in 3.7 percent of patients.

Results from the Phase I/Ib dose-escalation NP30179 study, evaluating CD20-TCB at doses ranging from 0.6 mg to 16 mg plus Gazyva in people with R/R B-cell NHL, showed an ORR of 54 percent (n=15/28) and a CR rate of 46 percent (n=13/28). This included an ORR and CR of 66.7 percent (n=4/6) in people with follicular lymphoma and an ORR of 50.0 percent (n=11/22) and a CR of 40.9 percent (n=9/22) in aggressive NHL. The most frequently observed adverse event across all treatment doses was CRS, occurring in 67.9 percent of patients (n=19/28), with the majority of events being low grade (Grade 1-2).

Both mosunetuzumab and CD20-TCB continue to be evaluated in a robust clinical development program, investigating the treatments as monotherapies and in combination with other therapies, in people with slow-growing and aggressive forms of NHL.

About Genentechs Investigational Bispecifics

Genentech is currently developing two T-cell engaging bispecific antibodies, mosunetuzumab and CD20-TCB, designed to target CD20 on the surface of B-cells and CD3 on the surface of T-cells. This dual targeting activates and redirects a patients existing T-cells to engage and eliminate target B-cells by releasing cytotoxic proteins into the B-cells. Mosunetuzumab and CD20-TCB differ in their structures, and both are being developed by Genentech as part of our ongoing strategy to explore multiple bispecific formats, to identify those that maximize potential clinical benefits for patients. The clinical development programs for mosunetuzumab and CD20-TCB include ongoing investigations of these molecules as monotherapies and in combination with other medicines, for the treatment of people with CD20-positive B-cell non-Hodgkins lymphomas, including diffuse large B-cell lymphoma and follicular lymphoma.

About the GO29781 study

The GO29781 study [NCT02500407] is a Phase I/Ib, multicenter, open-label, dose-escalation study evaluating the safety and pharmacokinetics of mosunetuzumab in people with relapsed or refractory B-cell non-Hodgkins lymphoma. Outcome measures include best objective response rate by revised International Working Group criteria, maximum tolerated dose, and tolerability.

About the NP30179 study

The NP30179 study [NCT03075696] is a Phase I/Ib, multicenter, open-label, dose-escalation study, evaluating the efficacy, safety, tolerability and pharmacokinetics of CD20-TCB. In this study, CD20-TCB is assessed as a single agent and in combination with Gazyva, following pre-treatment with a one-time, fixed dose of Gazyva, in people with relapsed or refractory B-cell non-Hodgkins lymphoma. Outcome measures include overall response rate, complete response rate per Lugano 2014 criteria, maximum tolerated dose, and tolerability.

About Non-Hodgkins Lymphoma

There are two main types of lymphoma: Hodgkins lymphoma and non-Hodgkins lymphoma (NHL). NHL has two subsets, aggressive and indolent (slow-growing).

NHL represents approximately 85 percent of all lymphomas diagnosed. According to the American Cancer Society, it is expected that nearly 74,000 people will be diagnosed with NHL in the United States in 2019, and nearly 20,000 will die from the disease.

Most cases of NHL start in B-lymphocytes, cells that are part of the bodys immune system and help to defend the body against infections. B-cell lymphoma develops when these cells become cancerous and begin to multiply and collect in the lymph nodes or lymphatic tissues such as the spleen.

Gazyva Indications

Gazyva (obinutuzumab) is a prescription medicine used:

Important Safety Information

The most important safety information patients should know about Gazyva

Patients must tell their doctor right away about any side effect they experience. Gazyva can cause side effects that can become serious or life threatening, including:

Who should not receive Gazyva:

Patients should NOT receive Gazyva if they have had an allergic reaction (e.g., anaphylaxis or serum sickness) to Gazyva. Patients must tell their healthcare provider if they have had an allergic reaction to obinutuzumab or any other ingredients in Gazyva in the past.

Additional possible serious side effects of Gazyva:

Patients must tell their doctor right away about any side effect they experience. Gazyva can cause side effects that may become severe or life threatening, including:

The most common side effects of Gazyva in CLL were infusion reactions, low white blood cell counts, low platelet counts, low red blood cell counts, fever, cough, nausea, and diarrhea.

The safety of Gazyva was evaluated based on 392 patients with relapsed or refractory NHL, including FL (81 percent), small lymphocytic lymphoma (SLL) and marginal zone lymphoma (MZL) (a disease for which Gazyva is not indicated), who did not respond to or progressed within 6 months of treatment with rituximab product or a rituximab product-containing regimen. In patients with follicular lymphoma, the profile of side effects that were seen were consistent with the overall population who had NHL. The most common side effects of Gazyva were infusion reactions, low white blood cell counts, nausea, fatigue, cough, diarrhea, constipation, fever, low platelet counts, vomiting, upper respiratory tract infection, decreased appetite, joint or muscle pain, sinusitis, low red blood cell counts, general weakness, and urinary tract infection.

A randomized, open-label multicenter trial (GALLIUM) evaluated the safety of Gazyva as compared to rituximab product in 1,385 patients with previously untreated follicular lymphoma (86 percent) or marginal zone lymphoma (14 percent).The most common side effects of Gazyva were infusion reactions, low white blood cell count, upper respiratory tract infection, cough, constipation and diarrhea.

Before receiving Gazyva, patients should talk to their doctor about:

Patients should tell their doctor about any side effects.

These are not all of the possible side effects of Gazyva. For more information, patients should ask their doctor or pharmacist.

Gazyva is available by prescription only.

Report side effects to the FDA at (800) FDA-1088, or http://www.fda.gov/medwatch. Report side effects to Genentech at (888) 835-2555.

Please visit http://www.Gazyva.com for the Gazyva full Prescribing Information, including BOXED WARNINGS, for additional Important Safety Information.

About Genentech in Hematology

For more than 20 years, Genentech has been developing medicines with the goal to redefine treatment in hematology. Today, were investing more than ever in our effort to bring innovative treatment options to people with diseases of the blood. For more information visit http://www.gene.com/hematology.

About Genentech

Founded more than 40 years ago, Genentech is a leading biotechnology company that discovers, develops, manufactures and commercializes medicines to treat patients with serious and life-threatening medical conditions. The company, a member of the Roche Group, has headquarters in South San Francisco, California. For additional information about the company, please visit http://www.gene.com.

Read more here:
Genentech Announces New Data on Novel Cd20-cd3 Bispecific Cancer Immunotherapies in People With Difficult-to-Treat Lymphomas - Business Wire

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced that the U.S. Food and Drug Administration (FDA) approved Tecentriq (atezolizumab) in combination with chemotherapy (Abraxane [paclitaxel protein-bound; nab-paclitaxel] and carboplatin) for the initial (first-line) treatment of adults with metastatic non-squamous non-small cell lung cancer (NSCLC) with no EGFR or ALK genomic tumor aberrations.

We are pleased to offer this Tecentriq-based combination as a new treatment option that can provide a clinically meaningful survival benefit for people with non-squamous non-small cell lung cancer, said Levi Garraway, M.D., Ph.D., chief medical officer and head of Global Product Development. Todays approval offers another opportunity to help prolong the lives of people with this type of the disease.

This approval is based on results from the Phase III IMpower130 study, which showed Tecentriq in combination with chemotherapy helped people live significantly longer compared to chemotherapy alone (median overall survival [OS] = 18.6 versus 13.9 months; hazard ratio [HR] = 0.80; 95% CI: 0.640.99; p=0.0384) in the intention-to-treat wild-type (ITT-WT) population. The Tecentriq-based combination also significantly reduced the risk of disease worsening or death (progression-free survival; PFS) compared with chemotherapy alone (median PFS=7.2 versus 6.5 months; HR=0.75; 95% CI: 0.630.91; p=0.0024) in the ITT-WT population.

Safety for the Tecentriq plus chemotherapy combination appeared consistent with the known safety profiles of the individual medicines, and no new safety signals were identified with the combination. Grade 3-4 treatment-related adverse events were reported in 73.2% of people receiving Tecentriq plus chemotherapy compared with 60.3% of people receiving chemotherapy alone.

In lung cancer, Tecentriq is also approved in combination with Avastin (bevacizumab), paclitaxel and carboplatin (chemotherapy), for the initial (first-line) treatment of adults with metastatic non-squamous NSCLC with no EGFR or ALK genomic tumor aberrations. Additionally, Tecentriq is approved by the FDA to treat adults with metastatic NSCLC who have disease progression during or following platinum-containing chemotherapy. Patients with EGFR or ALK genomic tumor aberrations should have disease progression on FDA-approved therapy for NSCLC harboring these aberrations prior to receiving Tecentriq. Tecentriq is also approved in combination with carboplatin and etoposide (chemotherapy) for the initial (first-line) treatment of adults with extensive-stage small cell lung cancer (ES-SCLC).

Genentech has an extensive development program for Tecentriq, including nine Phase III studies underway across different types of lung cancer, and multiple ongoing and planned Phase III studies across genitourinary, skin, breast, gastrointestinal, gynecological and head and neck cancers. This includes studies evaluating Tecentriq both alone and in combination with other medicines.

For those who qualify, Genentech offers patient assistance programs for people taking Tecentriq through Genentech Access Solutions. Doctors can contact Genentech Access Solutions at (866) 422-2377. More information is also available at http://www.Genentech-Access.com.

About the IMpower130 study

IMpower130 is a Phase III, multicenter, open-label, randomized study evaluating the efficacy and safety of Tecentriq in combination nab-paclitaxel and carboplatin versus chemotherapy (nab-paclitaxel and carboplatin) alone for chemotherapy-nave patients with stage IV non-squamous NSCLC. The study enrolled 724 people, of whom 681 were in the ITT-WT population and were randomized (2:1) to receive:

During the treatment-induction phase, people in Arm A received Tecentriq and carboplatin on day 1 of each 21-day cycle, and nab-paclitaxel on days 1, 8 and 15 of each 21-day cycle for 4 or 6 cycles or until loss of clinical benefit, whichever occurred first. People in Arm A received Tecentriq during the maintenance treatment phase until loss of clinical benefit was observed.

During the treatment-induction phase, people in Arm B received carboplatin on day 1 and nab-paclitaxel on days 1, 8 and 15 of each 21-day cycle for 4 or 6 cycles or until disease progression, whichever occurred first. People in Arm B received best supportive care during the maintenance treatment phase. Switch maintenance to pemetrexed was also permitted. People who were consented prior to a protocol revision were given the option to crossover to receive Tecentriq as monotherapy until further disease progression.

The co-primary endpoints were:

About lung cancer

According to the American Cancer Society, it is estimated that more than 228,000 Americans will be diagnosed with lung cancer in 2019, and NSCLC accounts for 80-85% of all lung cancers. It is estimated that approximately 60% of lung cancer diagnoses in the United States are made when the disease is in the advanced stages.

About Tecentriq (atezolizumab)

Tecentriq is a monoclonal antibody designed to bind with a protein called PD-L1. Tecentriq is designed to bind to PD-L1 expressed on tumor cells and tumor-infiltrating immune cells, blocking its interactions with both PD-1 and B7.1 receptors. By inhibiting PD-L1, Tecentriq may enable the re-activation of T cells. Tecentriq may also affect normal cells.

Abraxane is a registered trademark of Abraxis Bioscience, LLC, a wholly owned subsidiary of Celgene Corporation.

Tecentriq U.S. Indications

Tecentriq is a prescription medicine used to treat adults with:

A type of lung cancer called non-small cell lung cancer (NSCLC).

A type of lung cancer called small cell lung cancer (SCLC).

It is not known if Tecentriq is safe and effective in children.

Important Safety Information

What is the most important information about Tecentriq?

Tecentriq can cause the immune system to attack normal organs and tissues and can affect the way they work. These problems can sometimes become serious or life threatening and can lead to death.

Patients should call or see their healthcare provider right away if they get any symptoms of the following problems or these symptoms get worse.

Tecentriq can cause serious side effects, including:

Getting medical treatment right away may help keep these problems from becoming more serious. A healthcare provider may treat patients with corticosteroid or hormone replacement medicines. A healthcare provider may delay or completely stop treatment with Tecentriq if patients have severe side effects.

Before receiving Tecentriq, patients should tell their healthcare provider about all of their medical conditions, including if they:

Patients should tell their healthcare provider about all the medicines they take, including prescription and over-the-counter medicines, vitamins, and herbal supplements.

The most common side effects of Tecentriq when used alone include:

The most common side effects of Tecentriq when used in lung cancer with other anti-cancer medicines include:

Tecentriq may cause fertility problems in females, which may affect the ability to have children. Patients should talk to their healthcare provider if they have concerns about fertility.

These are not all the possible side effects of Tecentriq. Patients should ask their healthcare provider or pharmacist for more information. Patients should call their doctor for medical advice about side effects.

Report side effects to the FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch.

Report side effects to Genentech at 1-888-835-2555.

Please visit http://www.Tecentriq.com for the Tecentriq full Prescribing Information for additional Important Safety Information.

About Genentech in personalized cancer immunotherapy

For more than 30 years, Genentech has been developing medicines with the goal to redefine treatment in oncology. Today, were investing more than ever to bring personalized cancer immunotherapy (PCI) to people with cancer. The goal of PCI is to provide each person with a treatment tailored to harness his or her own immune system to fight cancer. Genentech is studying more than 10 cancer immunotherapy medicines across 70 clinical trials alone or in combination with other medicines. In every study we are evaluating biomarkers to identify which people may be appropriate candidates for our medicines. For more information visit http://www.gene.com/cancer-immunotherapy.

About Genentech in lung cancer

Lung cancer is a major area of focus and investment for Genentech, and we are committed to developing new approaches, medicines and tests that can help people with this deadly disease. Our goal is to provide an effective treatment option for every person diagnosed with lung cancer. We currently have five approved medicines to treat certain kinds of lung cancer and more than 10 medicines being developed to target the most common genetic drivers of lung cancer or to boost the immune system to combat the disease.

About Genentech

Founded more than 40 years ago, Genentech is a leading biotechnology company that discovers, develops, manufactures and commercializes medicines to treat patients with serious and life-threatening medical conditions. The company, a member of the Roche Group, has headquarters in South San Francisco, California. For additional information about the company, please visit http://www.gene.com.

See the rest here:
FDA Approves Genentech's Tecentriq Plus Chemotherapy (Abraxane and Carboplatin) for the Initial Treatment of Metastatic Non-Squamous Non-Small Cell...

In the summer, a mother in Nashville with a seemingly incurable genetic disorder finally found an end to her suffering -- by editing her genome.

Victoria Gray's recovery from sickle cell disease, which had caused her painful seizures, came in a year of breakthroughs in one of the hottest areas of medical research -- gene therapy.

"I have hoped for a cure since I was about 11," the 34-year-old told AFP in an email.

"Since I received the new cells, I have been able to enjoy more time with my family without worrying about pain or an out-of-the-blue emergency."

Over several weeks, Gray's blood was drawn so doctors could get to the cause of her illness -- stem cells from her bone marrow that were making deformed red blood cells.

The stem cells were sent to a Scottish laboratory, where their DNA was modified using Crispr/Cas9 -- pronounced "Crisper" -- a new tool informally known as molecular "scissors."

The genetically edited cells were transfused back into Gray's veins and bone marrow. A month later, she was producing normal blood cells.

Medics warn that caution is necessary but, theoretically, she has been cured.

"This is one patient. This is early results. We need to see how it works out in other patients," said her doctor, Haydar Frangoul, at the Sarah Cannon Research Institute in Nashville.

"But these results are really exciting."

In Germany, a 19-year-old woman was treated with a similar method for a different blood disease, beta thalassemia. She had previously needed 16 blood transfusions per year.

Nine months later, she is completely free of that burden.

For decades, the DNA of living organisms such as corn and salmon has been modified.

But Crispr, invented in 2012, made gene editing more widely accessible. It is much simpler than preceding technology, cheaper and easy to use in small labs.

The technique has given new impetus to the perennial debate over the wisdom of humanity manipulating life itself.

"It's all developing very quickly," said French geneticist Emmanuelle Charpentier, one of Crispr's inventors and the cofounder of Crispr Therapeutics, the biotech company conducting the clinical trials involving Gray and the German patient.

Crispr is the latest breakthrough in a year of great strides in gene therapy, a medical adventure started three decades ago, when the first TV telethons were raising money for children with muscular dystrophy.

Scientists practising the technique insert a normal gene into cells containing a defective gene.

It does the work the original could not -- such as making normal red blood cells, in Victoria's case, or making tumor-killing super white blood cells for a cancer patient.

Crispr goes even further: instead of adding a gene, the tool edits the genome itself.

After decades of research and clinical trials on a genetic fix to genetic disorders, 2019 saw a historic milestone: approval to bring to market the first gene therapies for a neuromuscular disease in the US and a blood disease in the European Union.

They join several other gene therapies -- bringing the total to eight -- approved in recent years to treat certain cancers and an inherited blindness.

Serge Braun, the scientific director of the French Muscular Dystrophy Association, sees 2019 as a turning point that will lead to a medical revolution.

"Twenty-five, 30 years, that's the time it had to take," he told AFP from Paris.

"It took a generation for gene therapy to become a reality. Now, it's only going to go faster."

Just outside Washington, at the National Institutes of Health (NIH), researchers are also celebrating a "breakthrough period."

"We have hit an inflection point," said Carrie Wolinetz, NIH's associate director for science policy.

These therapies are exorbitantly expensive, however, costing up to $2 million -- meaning patients face grueling negotiations with their insurance companies.

They also involve a complex regimen of procedures that are only available in wealthy countries.

Gray spent months in hospital getting blood drawn, undergoing chemotherapy, having edited stem cells reintroduced via transfusion -- and fighting a general infection.

"You cannot do this in a community hospital close to home," said her doctor.

However, the number of approved gene therapies will increase to about 40 by 2022, according to MIT researchers.

They will mostly target cancers and diseases that affect muscles, the eyes and the nervous system.

Another problem with Crispr is that its relative simplicity has triggered the imaginations of rogue practitioners who don't necessarily share the medical ethics of Western medicine.

Last year in China, scientist He Jiankui triggered an international scandal -- and his excommunication from the scientific community -- when he used Crispr to create what he called the first gene-edited humans.

The biophysicist said he had altered the DNA of human embryos that became twin girls Lulu and Nana.

His goal was to create a mutation that would prevent the girls from contracting HIV, even though there was no specific reason to put them through the process.

"That technology is not safe," said Kiran Musunuru, a genetics professor at the University of Pennsylvania, explaining that the Crispr "scissors" often cut next to the targeted gene, causing unexpected mutations.

"It's very easy to do if you don't care about the consequences," Musunuru added.

Despite the ethical pitfalls, restraint seems mainly to have prevailed so far.

The community is keeping a close eye on Russia, where biologist Denis Rebrikov has said he wants to use Crispr to help deaf parents have children without the disability.

There is also the temptation to genetically edit entire animal species -- malaria-causing mosquitoes in Burkina Faso or mice hosting ticks that carry Lyme disease in the US.

The researchers in charge of those projects are advancing carefully, however, fully aware of the unpredictability of chain reactions on the ecosystem.

6 Nov, 2019

6 Nov, 2019

6 Nov, 2019

6 Nov, 2019

6 Nov, 2019

Charpentier doesn't believe in the more dystopian scenarios predicted for gene therapy, including American "biohackers" injecting themselves with Crispr technology bought online.

"Not everyone is a biologist or scientist," she said.

And the possibility of military hijacking to create soldier-killing viruses or bacteria that would ravage enemies' crops?

Charpentier thinks that technology generally tends to be used for the better.

"I'm a bacteriologist -- we've been talking about bioterrorism for years," she said. "Nothing has ever happened."

Link:
A #ReUp of 2019: The year when gene therapy, DNA modifications came of age & saved lives - Economic Times

Its said that nothing is certain except death and taxes. But doubt has been cast over the former since the 1970s, when scientists picked at the seams of one of the fundamental mysteries of biology: the molecular reasons we get old and die.

The loose thread they pulled had to do with telomeresmolecular timepieces on the ends of chromosomes that shorten each time a cell divides, in effect giving it a fixed life span. Some tissues (such as the gut lining) renew almost constantly, and it was found that these have high levels of an enzyme called telomerase, which works to rebuild and extend the telomeres so cells can keep dividing.

That was enough to win Elizabeth Blackburn, Carol Greider, and Jack Szostak a Nobel Prize in 2009. The obvious question, then, was whether telomerase could protect any cell from agingand maybe extend the life of entire organisms, too.

While telomere-extending treatments in mice have yielded intriguing results, nobody has demonstrated that tweaking the molecular clocks has benefits for humans. That isnt stopping one US startup from advertising a telomere-boosting genetic therapyat a price.

Libella Gene Therapeutics, based in Manhattan, Kansas, claims it is now offering a gene therapy to repair telomeres at a clinic in Colombia for $1 million a dose. The company announced on November 21 that it was recruiting patients into what it termed a pay-to-play clinical trial.

Buyer beware, though: this trial is for an unproven, untested treatment that might even be harmful to your health.

Sign up for The Download your daily dose of what's up in emerging technology

The company proposes to inject patients with viruses carrying the genetic instructions cells need to manufacture telomerase reverse transcriptase, a molecule involved in extending the length of telomeres.

The dangers are enormous, says Jerry Shay, a world expert on aging and cancer at the University of Texas Southwestern Medical Center. Theres a risk of activating a pre-cancerous cell thats got all the alterations except telomerase, especially in people 65 and over.

For years now, people involved in the company have made shifting claims about the study, raising uncertainty about who is involved, when it might start, and even where it would occur. Trial listings posted in October to clinicaltrials.gov currently show plans for three linked experiments, each with five patients, targeting critical limb ischemia, Alzheimers, and aging, respectively.

Jeff Mathis, president of Libella, told MIT Technology Review that two patients have already paid the enormous fee to take part in the study: a 90-year-old-woman and a 79-year-old man, both US citizens. He said they could receive the gene therapy by the second week of January 2020.

The decision to charge patients a fortune to participate in the study of an experimental treatment is a red flag, say ethics experts. Whats the moral justification for charging individuals with Alzheimers? asks Leigh Turner, at the University of Minnesotas Center for Bioethics. Why charge those bearing all the risk?

The telomere study is occurring outside the US because it has not been approved by the Food and Drug Administration. Details posted to clincaltrials.gov indicate that the injections would be carried out at the IPS Arcasalud SAS medical clinic in Zipaquir, Colombia, 40 kilometers (25 miles) north of Bogot.

It takes a lot longer, is a lot more expensive, to get anything done in the US in a timely fashion, Mathis says of Libellas choice to go offshore.

To some promoters of anti-aging cures, urgency is justified. Heres the ethical dilemma: Do you run fast and run the risk of low credibility, or move slowly and have more credibility and global acceptancebut meanwhile people have died? says Mike Fossel, the president of Telocyte, a company planning to run a study of telomerase gene therapy in the US if it can win FDA signoff.

Our reporting revealed a number of unanswered questions about the trial. According to the listings, the principal investigatorwhich is to say the doctor in charge--is Jorge Ulloa, a vascular surgeon rather than an expert in gene transfer. I dont see someone with relevant scientific expertise, says Turner.

Furthermore, Bill Andrews, who is listed as Libellas chief scientific officer, says he does not know who Ulloa is, even though on Libellas website, the mens photos appear together on the list of team members. He said he believed that different doctors were leading the trial.

Turner also expressed concerns about the proposed 10-day observation period described in the posting for the overseas study: If someone pays, shows up, has treatment, and doesnt stick around very long, how are follow-up questions taking place? Where are they taking place?

Companies seeking to try the telomere approach often point to the work of Maria Blasco, a Spanish scientist who reported that telomere-lengthening gene therapy benefited mice and did not cause cancer. Blasco, director of the Spanish National Centre for Cancer Research, says she believes many more studies should be done before trying such a gene experiment on a person.

This isnt the first time Libella has announced that its trial would begin imminently. It claimed in late 2017 that human trials of the telomerase therapy would begin in the next few weeks. In 2016, Andrews (then partnered with biotech startup BioViva) claimed that construction of an age reversal clinic on the island nation of Fiji would be complete before the end of the year. Neither came to pass.

Similar questions surround Libellas most recent claims that it has two paying clients. Pedro Fabian Davalos Berdugo, manager of Arcasalud, said three patients were awaiting treatment in December. But Bioaccess, a Colombian contract research organization facilitating the Libella trial, said that no patients had yet been enrolled.

Also unclear is where Libella is obtaining the viruses needed for the treatment. Virovek, a California biotech company identified by several sources as Libellas manufacturer, did not answer questions about whether any treatment had been produced.

See more here:
Buyer beware of this $1 million gene therapy for aging - MIT Technology Review

Patient advocate and lung cancer survivor Nancy Cohen discusses living with stage 4 lung cancer.

Cohen served as keynote speaker during theCUREPatient-Focused Sessions at theNew York Lung Cancers Symposiumon Nov. 9, addressing a crowd of more than 80 patients with lung cancer, to help show that they can continue to live life as they wish and gather support from within the patient community.

In an interview with CURE, Cohen discussed the journey to becoming a patient advocate and how being involved with support groups gives her strength.

CURE: Can you tell us about your cancer journey?Cohen: My diagnosis was actually a little bit unusual in the sense that the story that many people tell is of a persistent cough or exhaustion or something, and sort of going doctor to doctor and taking a long time to find an answer. Mine was very fast. I felt a pain under my arm for a couple of days, a sharp pain. (I) took some Advil because I didn't know what else to do. Woke up on a Wednesday morning and it hurt to take a breath, which I knew was not a great sign and texted a close friend who's a pulmonologist. His response was, Nancy, you never complain. I'm sending you for a chest X-ray. And from that point, it was literally 48 hours from that text. I had a needle biopsy Thursday morning and results Friday.

I think it was the fact that the pulmonologist is a good friend of mine. I'm pretty sure that he called in every favor he's ever been owed by anyone in any lab to get everything happening that quickly. I think that was sort of why it happened so fast. And then obviously meeting with doctors and PET scans and brain scans and all of those attendant tests. That led to the discovery of the EGFR mutation that I had, and to the staging of the disease, and like so many others, it was not caught early, because there's no screening and I had zero risk factors for the disease. There would have been no reason currently to get screened, although I wish there had been. The disease had already spread to my brain and lymph nodes.

How did you cope with the new normal of having cancer?It took probably a good month or so to settle on a first-line treatment by the time we had all of these tests and everything else, so that month was definitely hectic. And then I was lucky lucky seems like a strange word to use but because I have this mutation, I was able to start on a targeted gene therapy on osimertinib (Tagrisso). It's an oral pill that I take every day and the side effects were really manageable. I would say (finding a new normal) was a gradual process for me and my family.

Did you lean on support groups or professionals to help you after diagnosis?Right from the beginning, I had a friend who had been diagnosed with lung cancer about two years before I had, and she was the one who made sure that I was getting the blood test that led to finding the genetic mutation. My doctor was already planning to do it, but she gave me the questions to ask to make sure that I was getting that. Because unfortunately, in many parts of our country, where you're diagnosed makes a big difference. This genetic profiling is not happening everywhere, and it is so crucial to get the right therapy for the specific mutation of the lung cancer.

When I started the TKI, I experienced side effects that I could go search in this Facebook group and see that I wasn't alone. I think the other thing that really is important is managing the mental health aspect of it. I started working with a therapist who specializes in oncology patients, and I think, we can talk about the stigma of lung cancer and the stigma of mental health and sort of making sure that neither of those is present because I think going through this is hard enough.

How did stigma affect you?When I was diagnosed and telling people other than my parents, literally every person I told the first question was, Did you smoke? I didn't. But really, why should that matter? Many years ago, I had a form of skin cancer. It was melanoma and (I) took it off and I'm fine. But you get melanoma, and no one says to you, Did you sit in the sun? Did you use baby oil? With that sort of a tone of voice that implies that you brought this on yourself.

I (recently) heard a statistic that 60% of patients with lung cancer are nonsmokers. So yes, smoking certainly is a contributing factor to lung cancer, but so are many other things. One of the issues of the stigma is the fact that it has led to, or because of the stigma, lung cancer receives so little funding and so little attention compared to how deadly it is.

How did you become a patient advocate?It took me a while before I was really ready to jump in. Shortly after I was diagnosed, the New York chapter of the American Lung Association sponsored a walk that I participated in and raised a lot of money, so they asked me to speak. That really was my first step into advocacy.

At the time, I was stable in my disease and my youngest child was graduating from high school and I was finishing up a big volunteer position, so it felt like a good time in my life to really jump into the advocacy waters more and do that with more purpose. And the summer had some health challenges in terms of my health and my treatments, so this fall has been really where I feel like I have stepped up.

I feel good now and I want to show people that this is what stage 4 lung cancer can look like. I hear from a lot of people wow because I think they're expecting me to look different than how I do. Being able to use my voice, raise money, raise awareness and be a resource for people who are newly diagnosed is important. I was really lucky to have people who helped me when I was in that position, and I feel lucky to be able to help those who are coming to me.

How can other patients who want to get involved in advocacy get started?There are many great organizations. American Lung Association is certainly one. There are events and walks, and other great opportunities for people to get involved. For example, if you're a part of a Facebook community and put it out there, Hey, I live in Chicago and I'd like to get more involved, is anyone out there?

Sadly, I think there are patients with lung cancer everywhere and opportunity for advocacy everywhere from the microlocal level. Live in a small town and have a small-town paper? There can be an editorial in that paper. And you can advocate to local elected officials at the state level for more funding and awareness.

Read more from the original source:
Patient Turned Advocate Raises Awareness for the Lung Cancer Community - Curetoday.com

If any phenomenon has played an unsung role in medical discoveries, it is serendipity. One such chance occurrence has now buoyed the hope of scientists struggling for years to find the holy grail of HIV research a possible cure.

It is heartening to note that worldwide, treatment and management of HIV has improved dramatically over the past two decades and people living with the disease are able to live longer and manage the disease with one pill as opposed to a cocktail of drugs at one point. However, HIV remains a global burden.

Stigma and ostracismcontinue to haunt sufferers, and in poorer countries, especially in Asia and Africa, the epidemic has remained the cruel adversary it always was.

Consider these numbers. According to UNAIDS 2018 figures, there are approximately 38 million people living withthe disease of which 36.2 million are adults and 1.7 million children. In 2018 alone, an estimated 1.7 million individuals were newly infected with the disease and the virus killed around a million people.

But first, the good news

However, there is considerable good news too. The number of Aids-related deaths has seen a huge drop of nearly 50 per cent from 2005 to 2017 worldwide. In India too, there has been a similar decrease with a 56 per cent decrease in deaths from 2010 to 2017. The number of new HIV infections in India also reduced from 1,20,000 to 88,000 in the same period.

This number crunching is important because it not only reveals the extent to which global HIV/Aids awareness campaigns have succeeded but also affirms the greatly improved efficacy of the Anti-Retroviral Treatment (ART).

In fact, so efficient is the treatment now that opinion is divided in the medical community about whether the research ought to focus on finding a cure or if the same money could be better utilised by making ART accessible to more people.

When I treated my first HIV patient way back in 1989, all we talked about was suffering and dying. Today, the atmosphere in my clinic is so positive some of my HIV patients have lived longer than those suffering from other chronic diseases like diabetes and hypertension, says Dr K S Satish, senior consultant pulmonologist at the Fortis Hospitals, Bangalore, who has had 30 years of experience in the field of HIV medicine and has been part of several clinical trials.

No longer a death sentence but...

Having said that, the doctor cautions that though HIV has ceased to be a death sentence as it were, when medications are not taken or when people do not have constant access to the pill, the risk of the virus rapidly taking over the infected body is real and alive.

As Consultant Physician Dr Shylaja Shyamsundar, who has long been treating HIV-infected patients at BGS Gleneagles Global Hospital, Bangalore, says,unlike other viruses, HIV-infected cells can hide and be virtually invisible to the bodys immune system and treatment therapies. Stop the pill and they come out of hiding and begin multiplying in billions. Not only that, they also turn mutant which is why complete compliance to the treatment is critical.

What ART does, explain the doctors, is suppress the multiplying of the virus; in other words, it keeps the devil under checkbut cannot (and does not)eliminate it.

It is precisely because ART cannotkill the virusthat eminent researchers like Prof John Frater of the University of Oxford are advocating for not takingthe hunt for a cure off the HIV agenda.

And with the unexpected discovery of a possible path to a cure, a surcharge of hope has run through the HIV/Aids research community, struggling for years to find a breakthrough.

What happened with the London patient?

Breaking down the complex procedures that led up to this discovery, Dr Satish explains how an infected person in the UK, identified only as the London patient was declared cured a few months earlier this year. This London Patient was diagnosed with HIV in 2003 and in 2012, it was discovered he had advanced Hodgkin lymphoma, the cancer of the immune system.

The only way to treat him was through intense chemotherapy and a bone marrow transplant containing stem cells to rebuild his immune system. Doctors selected a donor with a rare genetic mutation that granted him resistance to HIV and thus the London patients immune system was rebuilt with HIV resistant cells.

A shift in focus

A decade earlier, exactly this procedure had been applied on another patient Timothy Ray Brown and he is today free of HIV. Curiously enough, researchers had failed many times to replicate the procedure on others till they finallyfound success with the London patient. (This is also why they are still to completely understand what exactly workedthis time around.)

Dr Shylaja adds that in March this year, doctors who treated the London patient announced that it has been 18 months since the HIV virus has been undetectable in his body and thus he could be considered cured.

In fact, withthis unexpected success, the focus of the research has shifted subtly to these aforementioned hiding cells.Technically known as latently-infected cells, these are the ones researchers are now looking to destroy to findthe all-elusive cure.While some researchers are using the shock and kill approach wherein they are trying to bring these hiding cells out in the open so that they can be eliminated, others are looking for ways to destroy them while they are in hiding itself.

Gene therapy to the rescue?

The exciting part is of course how they are planning to conduct this guerilla warfare through gene therapy and gene editing the sexiest areas of medical research today.

Evidently, as far as a cure for HIV/Aids is concerned, it is hope that ought to be garnished with a dose of realism. As some researchers put it, with the new successes, they have traversed a journey from mere aspiration to solid feasibility. And that itself has beena long and hard road.

See original here:
Are we any closer to a cure? - Deccan Herald

When I was a little girl, I had high-flying dreams and they had very little to do with my juvenile arthritis, a childhood illness similar to rheumatoid arthritis (RA). First, I wanted to be a ballerina and practiced dance moves on my parents' Persian rug. Then I watched Jacques Cousteau and his crew of marine biologists diving in waters all over the world and scuttled the dancing dream in favor of serving on his ship, the Calypso, and spending much of my life under water. But at age 16, I went home after a two-year hospital stay in a power wheelchair, trailing recommendations from my then-medical team to lower my expectations of life to those resembling a turnip's. Because of the disease, y'know.

It would be easy to dismiss this as a function of attitudes in a land and time far away from now. But these perceptions persist, if not in others, then certainly in ourselves. Its a strange thing, this shift in assumption and expectation. The minute you get a diagnosis of chronic illness, its as if the rug is pulled out from under you. Your future, which had just shone with possibility, now seems dull, hopeless, and framed in less-than.

Do you really have to give it all up and accept a life of sitting on the sidelines? No. Not by a long shot. The key is to adapt and change your approach. But more on that in a bit. First, lets take a look at the obstacles.

I've lived with RA for more than half a century and have learned that the only predictable thing about this condition is that you never know what it'll do next. Sometimes, you're lucky and find a medication that works, suppressing the symptoms so you can get back to your life. At other times, its all you can do to get dressed in the morning. And, of course, all the stages in between.

Fifty years ago, an American psychologist by the name of Martin Seligman did a study that led to a classic theory of depression. He divided dogs into two groups. Both would receive shocks, but one group of dogs would be able to escape, the other not. The dogs that had no control over the situation curled up in a ball, whimpering. Seligman developed a theory called learned helplessness, stating that when people have no agency (that is, no control), they are more likely to develop depression.

When you have no ability to predict how your RA will feel in the morningand therefore what you will be able to doyou can feel helpless. If youre feeling that kind of helplessness for weeks or months, it spreads into other areas of your life, making you feel depressed. It may even be accompanied by its bratty cousin, "Feel Like Giving Up." And that's OK. Because RA affects every part of your life and it's hard to re-learn how to be you. There's nothing wrong with having a moment (or 10) of intense frustration. But what's really important is to make sure it doesn't stick around.

So much of living with RA is about kicking that cousin out of your psyche. Again, your doctor can help, as can therapy, family and friends, and a community of others like you. Having support will help you fight back and find other ways of taking up the reins of your life.

The great thing about life is that there is no one way to do anything. Whether it's opening a jar, having a family, or building your own business, there are ways around that big boulder called RA in the middle of your path. These tips can help:

Talk to your doctor. Your rheumatologist is one of the most important members on your team. If your RA is getting in the way of you creating a life, call them. You might need to adjust your treatment so you can start the journey back to living first, with RA just muttering in the background. Many people also include diet, exercise, supplements, and alternative treatments in how they approach living with RA.

Give yourself extra time to achieve your goals. Maybe your RA diagnosis won't require a complete change in direction for your life. You might be able to stay on your current career path or even keep training for that big race you've been wanting to tackle, but it's probably going to take a little extra time to get there. Getting the right treatment working for you can take time, and flares don't respect your "to-do" list.

Don't expect to follow "normal" timelines when it comes to working toward big goalsRA is bound to get in the way. When it comes to dreams, pursuing them is what matters, not how you go about it. You are free to create your own path, one that respects and accommodates your RA. For instance, I used to work as a policy analyst, frequently working from home four days a week on research and writing tasks. This enabled me to work much more effectively, with fewer sick days.

When RA brings physical limitations, use your mental muscle instead. I will forever be grateful to my parents for the way they dealt with the lost teenager who came home from the hospital. They told me that although my body might not work very well, there was nothing wrong with my mind and they expected me to use it. This meant working hard in school so I could get to college. By then, I had realized the importance of focusing on what I was able to do (and not just because I couldn't swim, so working with Cousteau was a wash).

Finding alternate routes to getting where I wanted to go eventually became a bit of a hobby and by now, I can almost always find a way around an obstacle. Remember that although your condition might get in the way of you becoming a trapeze artist, you can absolutely find another way to be in the circus.

Go easy on yourself, but not too easy. Frustration about struggling with RA might get misdirected toward yourself. Try not to be angry at yourself or your body. It'll get you nowhere, except derailed, and it isnt something you would tolerate for anyone else. Be kind and understanding to yourself.

Human beings have a gift of adaptation, being able to live in almost any climate, under any conditions, and changing their approach to survive. Use that gift to create your life. Yes, with RA, but a life in which you tear down limits of low expectations.

Following your dreams is a process, sometimes a long one, with side tracks and pauses, and often infuriatingly so. But persevering, accommodating your own needs to move slower, to take pauses, but then reassessing and getting back to your path is possible. The only way to live with RA is to become as stubborn as a goat and refuse to stay down. You learn to withstand long periods of having to put your dream (and your life) on hold while you deal with your condition and its nonsense. During those times of flares and pain, you hone a single-minded focus by getting through each day. When it is over, when you are better and get your life back, you use that focus to pick up your dream and work on it some more.

After many years of attending university, with many challenges, I graduated with my masters degree in social work. After immigrating to Canada from Denmark, and with the offer of a government job in human rights, I thought of those doctors who'd had zero expectations of the girl with a chronic illness and disability. In that moment, I wanted very much to write them a letter, telling them how their assumptions of my inability had had the exact opposite effect: They had only spurred me on.

In my family, that's called the "Show the Bastards" gene. I'll bet you have one, too.

Go here to read the rest:
Rheumatoid Arthritis Will Change Your Life. It Doesn't Have to Ruin It. - HealthCentral.com

Inside a small dance studio on the third floor of a little building tucked next to the Coates Theatre at University of Incarnate Word, about 15 dancers huddled together Saturday afternoon after Thanksgiving for an advanced workshop led by Eliotte Woodford.

The girls could already pirouette like professionals. Their graceful yet strong jumps looked like they would break through the mirror in front of them.

But Woodford, 31, urged them to go bigger.

Imagine youre on a big stage, super big, like a stadium and 100,000 people are watching you, Woodford said. Imagine theyre in the last seat in the stadium. Youre this big to them, she said while squeezing her fingers together as if she picked up an ant.

The San Antonio native knows from experience how to perform for that fan in the nosebleed section of the worlds biggest stadiums. Eliotte Nicole, as she goes by in the entertainment world, has performed before 100,000 people in sold out concerts all over the world.

Woodfords rsum includes a long list of stars she has performed with including Cher, Pitbull and Meghan Trainor. But most notably, Woodford has sang and danced backup to super star Taylor Swift for the singers last three world stadium tours: Red, 1989 and Reputation. Woodford is currently promoting Swifts latest album, Lover, and performed with Swift on the American Music Awards stage in Los Angeles last Sunday, where Swift was awarded Artist of the Decade.

But before all of that, Woodford sang and danced at San Antonios Reagan High School, in the North East Independent School District, from where she graduated in 2006.

Required Reading: Get San Antonio education news sent directly to your inbox

You know technically you danced for me first, Woodfords longtime friend, Amanda Jeffries sometimes tells Woodford, who gets a kick out of it. Its true, Woodford says. She was in Jeffries performance at the high schools annual, much anticipated Pop Show.

Woodford got the singing gene from her mother, Juli Henderson, who owns and operates her own private voice studio, JH Voice Studio. But her venture into dancing was a fluke, Henderson said.

Woodford was a tomboy and an athlete while was attending Bush Middle School and dreamed of swimming in the Olympics. But an injury sidelined her, and people around her suggested she take up dancing as movement therapy. She at first rejected the notion of a girly girl activity, but later decided to give it a try. It was the beginning of what would be a years-long conversation about the direction of her life.

In high school, she participated in Charmers Pep Squad, Silver Stars Drill and the Diamond Dancers teams. She also sang in the choir and twice made the coveted Texas All-State Choir. It was with the choir that she first traveled to New York and attended Broadway shows that left a mark on her.

I was just like Holy moly this is awesome just seeing the magic of New York, Woodford said.

All the while, she was taking advanced-placement classes and was inducted to the National Honor Society.

Her choir teacher, Jo Scurlock-Dillard, was amazed by Woodfords concentration. In faculty group meetings, Woodfords teachers would marvel at how much Woodford exceeded in.

I would go to her counselor and say, I dont think she ever sleeps, Scurlock-Dillard recalled.

Though she was talented in performing arts, Scurlock-Dillard thought Woodford would go on to become a doctor, like her father.

Woodford did, too. She went to Washington University in St. Louis because it is known as a good school for pre-medicine students. She started studying dance and biology, but she had a nagging feeling that a medical career was not what she was supposed to do with her life. She changed her majors to dance and marketing, with it in the back of her mind that she might go into the entertainment business. She recorded and toured with an a capella ensemble and danced for a professional dance company.

I was slowly falling in love with this idea of performing. I dont think I was really able to admit it for real until I was maybe in college, in my freshman or sophomore year, Woodford said.

Her dream of performing was solidified the summer before her junior year in college when she interned at the Broadway Dance Center in New York. She said she went hoping to discover how she stacked up against top tier performers. She finished the summer signed with an agent.

I was like, Ok, were going to do this, Woodford said. She graduated with her bachelors degree in 2010 and persuaded her parents to let her go to L.A. in pursuit of a different career.

On ExpressNews.com: Reagan marching band, dancers stop by 'Today Show' while in NYC for Macy's Thanksgiving Day Parade

There, she worked the early morning shift at a Starbucks which allowed her to go to auditions in the afternoons and work as a bartender in the evenings until she regularly booked performing gigs.

Back in the San Antonio studio Saturday, Woodford told the girls to pretend a camera was inches from their face.

This is what I want to see. I want to see your personality. Its your own show, she said.

Your personality is what will set you apart from the hundreds of other girls in the audition room who have the same skill set, Woodford told her students. Casting directors will observe how they engage one another before they ever begin to perform, she said.

Watching her daughter never gets old, said Henderson who stood against a side wall in the studio. Woodfords parents have traveled the world following their daughter, like groupies, Henderson said with a laugh.

The first time Woodford returned home for a performance was in 2013 during Swifts Red tour. Coincidentally, it was the last of Swifts tours to travel to San Antonio.

The show coincided with the San Antonio Spurs playoff run against the Miami Heat. Still a devout Spurs fan, Woodford paraded the stage wearing a Tim Duncan jersey over her costume for the final bow.

No matter where Woodford goes, shes a San Antonian at heart. A Lyft driver recently shared that his daughter was contemplating a move to San Antonio.

Its the best city, Woodford recalled telling him.

It is where Woodford married her husband, Ryan Woodford. Swift flew in to attend the wedding at Trinity Universitys Parker Chapel and the reception at the Pearl Stable. It was a no-brainer, Woodford said, to marry in her hometown.

And she always tries to give back to her community. Last year, during Swifts Reputation tour, Woodford took a detour between concerts in Houston and Arlington to visit her alma mater and talk to students at Reagan High School. Her message that lessons learned in dance and choir are true across career paths inspired students, said Jeffries, who is now an assistant choir director there.

The workshop on Saturday benefited the San Antonio Ballet School and Youth Ballets outreach program that teaches kids in South San Antonio and San Antonio independent school districts.

Woodford credits San Antonio in part for her success. Southern hospitality that Texas is known for influenced her personality and her motto: Work hard and be kind.

If you work hard and just be nice to people, youll be OK, she said. Youll make it.

Krista Torralva covers several school districts and public universities in the San Antonio and Bexar County area. Read her on our free site, mySA.com, and on our subscriber site, ExpressNews.com. | Krista.Torralva@express-news.net | Twitter: @KMTorralva

Go here to read the rest:
San Antonio woman, a singer and dancer with Taylor Swift, gives back to communitys performing arts - San Antonio Express-News

When Amber Freed first told doctors her baby boy wasnt able to move his hands, they said that wasnt possible.

Freed had given birth to twins in March 2017. While her baby girl, Riley, squirmed and babbled and crawled through the first year of her life, her fraternal twin, Maxwell, was different. He didnt crawl or babble like Riley did. I would fill out their baby books each month, and Riley had met all of these milestones. Maxwell didnt reach one, she said. Most alarmingly, however, Freed noticed that he never moved his hands.

She knew the news was going to be bad when they sent her to the sad room at the hospital, a featureless conference space filled with grim-faced doctors, to hear the diagnosis.

You take your baby to the doctor and you say, He cant move his hands. And they look at you and they say, Of course he can, said Freed.

Then they look for themselves, and you can see from the look on their faces that they have never seen anything like this.

On June 14, 2018, at the Children's Hospital Colorado in Denver, Maxwell was diagnosed with a genetic disease called SLC6A1. The diagnosis explained why the infant hadnt moved his hands or learned how to speak for the first year of his life, while Riley was thriving. But it didnt explain much else: All the doctors who diagnosed Maxwell knew about the genetic disease came from a single five-page study published in 2014, the year of its discovery. It was too rare to even have a name, she was told, so the doctors just called it by the name of the affected gene: SLC6A1.

Now her 2-year-old son is at the center of a multimillion-dollar race against time, one thats come to include genetics researchers whom Freed personally recruited, paid for by $1 million that Freed and her husband, Mark, have raised themselves. At the center of their research will be specially crafted mutant mice that Freed paid scientists in China to genetically alter to have the same disease as Maxwell. The four mice are scheduled to arrive stateside next week, but Freed said shes prepared to smuggle them into the US disguised as pets if there are any problems.

In total, Amber and Mark will need to raise as much as $7 million to test a genetic treatment for their child. And unless they can find and fund a cure, SLC6A1 will condemn Maxwell to severe epileptic seizures, most likely starting before he turns 3. The seizures may trigger developmental disabilities for a lifetime, often accompanied by aggressive behavior, hand flapping, and difficulty speaking.

And the Freeds will have to do it largely alone there are only an estimated 100 other people diagnosed with SLC6A1 in the world. This is the rarest of the rare diseases, pediatric geneticist Austin Larson of the Children's Hospital Colorado told BuzzFeed News.

SLC6A1 is just one of thousands of untreatable rare diseases, and the perilous path it has set up for Freed, half science quarterback and half research fundraiser, is one that few parents can follow. My dream is to create a playbook of how I did this for those that come after me, said Freed. I never want there to be another family that has suffered like this.

You can think of SLC6A1 as a vacuum cleaner in the brain, genetic counselor Katherine Helbig of the Childrens Hospital of Philadelphia, told BuzzFeed News. Helbig will speak at the first conference on the gene at the American Epilepsy Society meeting in Baltimore on Dec. 5, an effort organized by Freed.

The protein made by the gene acts as a stop sign to message-carrying chemicals in the brain, halting them by vacuuming them up once they reach their destination brain cell, Helbig explained.

When one of the two copies of the SLC6A1 gene in every brain cell is damaged, like in Maxwells case, too little of its protein is available to perform its vacuuming duties, leading to miscommunication between cells, developmental disorders, autism-like symptoms, and, often, severe epileptic seizures.

Maxwell is about the age when epileptic seizures typically start in kids with the genetic disease, said Helbig, adding, There probably are many more children out there who have it, but they just havent had the right test to find it. At least 100 similar genetic defects cause similar kinds of epilepsy, afflicting about 1 in 2,000 kids, she said.

I was the one who presented this diagnosis to Amber, said Larson of the Children's Hospital Colorado. There was no medicine or diet or any other treatment for SLC6A1. It wasnt an easy conversation. Most of the time when we present a diagnosis for a genetic condition, there is not a specific treatment available.

At that moment, it was just vividly clear that the only option was for me to create our own miracle, said Freed. Nobody else was going to help.

Half the battle with a rare genetic disease is getting researchers interested, said Helbig.

At that moment, it was just vividly clear that the only option was for me to create our own miracle. Nobody else was going to help.

So that is what Freed set out to do. She quit her job as a financial analyst and started making phone calls to scientists, calling 300 labs in the first three months. For those who didnt respond, she sent them snacks via Uber Eats.

Her search, and a rapid-fire education on genetic diseases, led her to conclude the best hope for helping Maxwell was an experimental technique called gene therapy.

All the roads zeroed in on one scientist: Steven Gray of the University of Texas Southwestern Medical Center in Dallas. In 2018, a team headed by Gray reported the first human experiments of gene transfer by spinal injection, conducted in 5 to 10 children with mutations in a gene called GAN that causes swelling in brain cells.

The GAN gene transfer in that experiment, first tested in mice, attached a corrected version of the damaged gene to a harmless virus. Viruses reproduce by infecting cells and hijacking their DNA machinery to reproduce their own genes, making more viruses. The gene therapy virus in turn leaves behind a corrected gene in the DNA of cells they infect. Injected into the spinal cord, Grays virus can travel straight to the brain, leaving behind the corrected gene after the virus has run its course.

I gave him my 30-second equity analyst pitch. I told him why Maxwell was a good patient, that we would raise $4 million to $7 million, and quarterback every step of the research, she said. And it worked. He agreed to make it a priority if we could raise the money.

The SLC6A1 researchers with the Freeds at a science meeting. From left: Terry Jo Bichell, Frances Shaffo, Amber Freed, Katty Kang, and Mark Freed.

Less than a month after meeting Gray, Freed contacted a lab at Tongji University in Shanghai that was also researching SLC6A1. The lab agreed to develop a mouse with Maxwells specific mutation for less than $50,000, using a gene modification technology called CRISPR that has revolutionized genetic engineering in the lab. CRISPR mice are much more expensive in the US, and this lab had experience with the gene, said Freed.

By July of this year, an experiment with a gene therapy virus that corrects SLC6A1 was tested on normal lab mice, which showed no sign of a toxic response, an encouraging sign. And by September, a line of CRISPR mice with Maxwells exact genetic mutation had been created at Tongji University.

It is the literal mouse version of him, said Freed. Testing a therapy in this mouse is as close as science can get to testing in my son directly.

To pay for all this, Maxwells family started fundraising last November and organized the first medical symposium on SLC6A1 in New Orleans that same month. They opened a GoFundMe account, which has raised $600,000, and held 35 fundraisers, which raised an additional $400,000 by October. In one charity competition, Larson from the Colorado Childrens Hospital, who diagnosed Maxwell, personally helped her raise $75,000.

It is the literal mouse version of him. Testing a therapy in this mouse is as close as science can get to testing in my son directly.

That money is helping to pay for the next step getting the CRISPR mice to Grays lab to test the SLC6A1-correcting virus on them. But its not as simple as putting the mice in a box and shipping them by mail. The mice will be transferred through a lab at Vanderbilt University headed by Katty Kang, an expert on the neurotransmitter disrupted by Maxwells mutation.

Amber is helping us to advance science, and everyone is making this a priority because of the young lives at stake not just Maxwell, but other children this could help, Kang told BuzzFeed News.

Once the four mice arrive, they will spend several weeks in quarantine, be tested to make sure they have Maxwells specific point mutation in the SLC6A1 gene, and breed with normal lab mice to produce generations of mixed-inheritance mice to serve as controls in future experiments. The mutant mice will be closely monitored before they head to UT Southwestern to make sure that they demonstrate the same problems and genetics as human patients with SLC6A1 and can therefore be used in any future clinical trials of gene therapy.

Right now at UT Southwestern, results from a safety test of the gene therapy virus conducted by Grays lab on young, normal lab mice is awaiting publication. If that works out, once the Chinese mice are sent over, they will also receive the gene-correcting virus. His team will see if their symptoms improve and to what extent their brain cells accept the corrected gene.

Maxwell's brain cells seen through a microscope (left), and a sample of his cells in a petri dish.

And then, Freed just needs another $5.5 million. Half a million dollars will go to test the virus in a second SLC6A1 animal model, likely a rat, as another safety step. Two million dollars will go toward creating more of the gene-correcting virus for a human safety study if that proves to be safe. And finally, if all that works out, $3 million will be needed to conduct the experiment on Maxwell and other children next year, following the path of the GAN clinical trial led by Gray.

Its a really horrible realization that the only thing standing in the way of a cure for your 2-year-old is money, said Freed.

Freed acknowledges that she has only been able to pursue a cure for Maxwell because her family has the resources to do so which she would never have had growing up in small towns in Texas, Montana, and Colorado in a poor family affected by alcoholism. I grew up visiting my parents in rehab and knew what to say to put a family member on a 72-hour psychiatric hold by age 12, she said. She dug herself out to build a career in finance, and hoped her kids would never have to experience the struggles she did growing up.

Even so, the fight hasnt been easy on them or on Maxwells sister, Riley.

Freed worries her daughter is growing up in doctors' waiting rooms, waiting on treatments for her brother to end. Maxwells disease has progressed, causing him to constantly clench his fingers, and sometimes pull his sisters hair. His 3-year-old sister will gently remind him, Soft hands, Maxie.

Families like the Freeds are at the forefront of efforts to turn diagnoses of rare genetic ailments, which often used to be the stopping point for medicine, into treatments. A similar case saw the family of a 3-year-old girl, Mila Makovec, raise $3 million for gene therapy to cure her Batten disease, a deadly genetic brain disease that affects 2 to 4 of every 100,000 children born in the US.

In a New England Journal of Medicine editorial on that case published in October, FDA officials questioned how high the agency should set the safety bar for such treatments, meant for severe diseases affecting so few people. In these cases, parents are often collaborators in developing treatments, and might not want to stop efforts that come with high risks. Even in rapidly progressing, fatal illnesses, precipitating severe complications or death is not acceptable, so what is the minimum assurance of safety that is needed? wrote senior FDA officials Janet Woodcock and Peter Marks.

This is way beyond what anyone expects of families.

Finally, Woodcock and Marks wrote, finding sustainable funding for such interventions may prove challenging, because the cost of production can be quite substantial, particularly for gene therapies.

In our era of financial inequality, the specter of wealthy parents buying custom genetic treatments for their childrens ailments while other parents desperately resort to GoFundMe accounts, or else do nothing looms as a possibility.

This is way beyond what anyone expects of families, said Larson. The pathway has been opened up by the brave new world of improved genetic diagnoses, and the coming of age of rapid genetic engineering tools like CRISPR.

But only 20 years ago, an experimental gene therapy that relied on a harmless virus killed an 18-year-old volunteer, Jesse Gelsinger, in a research misconduct case that brought gene therapy to a standstill. Now more than 2,500 gene therapy clinical trials have been conducted, and more than 370 are underway. The human genome was not sequenced until 2000; today, mapping an entire human gene map costs around $700. In this new era, customized treatments for rare genetic diseases like Maxwells are suddenly possible.

What I hope is that we are paving the way for other parents to help their children, said Freed.

Families of children with rare genetic diseases are also working together to make treatments like the one Freed is spearheading possible, said Larson.

They support each other and work together, he said. The best example might be the families of children with cystic fibrosis, who through the Cystic Fibrosis Foundation and the discovery of the gene responsible for the disease in 1989 have pushed for the discovery of new drug treatments. In October, the FDA approved a breakthrough pharmaceutical that could treat 90% of cases.

It is easier working with FDA on this kind of approach rather than starting from scratch, Gray told BuzzFeed News by email. After all, he said, its easier to follow a path that youve already walked down.

Similarly, Freed hopes the SLC6A1 Connect advocacy group she started can lead to similar treatments for other children with genetic epilepsies caused by the gene.

I dont think any parent should be expected to single-handedly cure his or her childs rare disease, said Helbig. Amber is a very tenacious and persistent person, and she will fight tooth and nail for her kids. But a lot of people dont have the resources and they shouldnt have to.

Helbig says that cautious optimism is appropriate on the chances of research yielding a genetic therapy for children like Maxwell. For SLC6A1, its really too early to say whether this is going to work.

But if it works, it might lead many more parents to get genetic tests for children that will reveal undiagnosed problems, she said. Many doctors discourage extensive genetic tests, thinking they wont find anything helpful. In the absence of known treatments, insurers are also reluctant to pay for such tests, discouraging all but the most fortunate and resourceful parents. Even for them, there are no guarantees.

The other tough reality is the possibility this treatment wont be completed in time to help Maxwell, said Freed. I love him with every ounce of my being, and I want him to know that I did everything humanly possible to change his outcome.

View post:
This Mom Is Buying Mutant Mice From China To Find A Cure For Her Sons Rare Genetic Disease - BuzzFeed News

By David Bjorkgren, Senior Editor

Special to the Hellenic News

Dr. Despina Siolas has wanted to build an arsenal to fight cancer ever since her mother was diagnosed with colon cancer in the late 1990s.

Because of undergoing this experience growing up, I decided I wanted to work on cancers, specifically gastrointestinal cancers, Dr. Siolas says.

She has always had a scientific curiosity about the world so it was a natural transition to shift to the medical field when she saw how cancer affected the life of her mother and family.

Fortunately, her mom responded well to treatment and she has been cancer-free for 23 years.

Not everyone has had access to effective cancer treatments, however.

In todays world, treatments have been largely ineffective against pancreatic cancer because of that cancers unique biology.

Dr. Siolas would like to change that.

My specific research looks at the immune system in pancreatic cancer and how pancreatic cancer avoids immune detection, she explains.

Pancreatic cancers ability to hide from our own immune systems makes it particularly deadly. It is projected to be the second highest cause of cancer related deaths by next year.

Around the tumor there are immuno-suppressant cells, cells that make it unrecognizable to the immune system, she explains. Were trying to see what the change is in the immune armor that would make cancer evident to the immune system.

Others are enthusiastic about her work. The National Cancer Institute recently gave her the NCI Mentor Clinical Scientist Research Career Development Award.

This prestigious award includes a five-year grant to fund pancreatic cancer research.

Theres not that many recipients. Im the second person in history to receive it for medical oncology.

Immunotherapy, using ones own immune system to eradicate cancer cells, is a relatively new therapy, in use a little less than 10 years.

Its more potent than a lot of chemotherapies and it has the potential to cure the patient. Thats why its very attractive as a therapy, Dr. Siolas says.

But so far its only been largely successful in a handful of cancers, specifically melanoma, lung and bladder cancer. Through her research she hopes to add pancreatic cancer to the list.

Obesity and smoking are two of the key risk factors in contracting pancreatic cancer. Pancreatitis is another way.

Because the obese population is increasing we are seeing an increase in incidents of toxic pancreatic cancer, she says.

Still, there are plenty of those who arent obese or smokers, but are still diagnosed.

Some have a genetic-predisposition for pancreatic cancer, though that doesnt necessarily mean theyll get it.

The big push in the pancreatic cancer field right now is to screen for patients who have an inherited gene, or DNA, that makes them susceptible to getting cancer.

At NYU Langone Medical Center, where Dr. Siolas works, theres a free simple blood test that can screen for the pancreatic cancer gene. Its available to everyone who has a first degree relativea father, mother, sister, brother, daughter or son with pancreatic cancer.

As early detection improves, patients are being treated for smaller tumors that are easier to control and manage.

Cancer treatment overall has improved in the past 10 years, but theres more to do.

Even though our treatments have improvedits not a six-month death sentence it used to be, we have a lot more work to do if we want to cure patients.

Seeing what her mom went through and the effect cancer and treatments had on the family has made Dr. Siolas particularly sensitive to a patients needs.

A life-altering diagnosis brings anxiety to the patient and their families. She takes time to reassure, explaining in understandable terms whats happening to them and what kind of treatments are available.

Ultimately, its their decision on how they want to proceed.

Treating physicians need to know the patients background and circumstances, to help them find the best social support system.

I have a patient who lives alone, has no family so theres no one to check in on him. Theres no one to call him up. We know hes going to have a harder time than a patient who lives with family members who are able to say, hey, youre not feeling well, let me make you something.

These days, there are many more support systems available to cancer patients. Dr. Siolas says places like Penncare and the Pancreatic Cancer Action Network. Theyre really good. They have a lot of programs. They have information to help patients better understand, connect talk to others, she says.

Theres also symptomatic oncology, a relatively new branch of medicine focusing on treating the symptoms of cancer. Patients have access to nutritionists, massage therapist, yoga, acupuncture, even culinary classes.

Whether its treating patients or conducting pure cancer research, Dr. Siolas brings the influences of her parents and her Greek background with her.

It was her father, John Siolas that spurred her interest in science. Holding a Ph.D. in bilingual education, he worked on curriculum development for the New York public school system. He also worked with Greek teachers and the Greek Archdiocese on Hellenic education, devising the Greek Regent Exams, and Greek proficiency tests for students. He lives in Queens today.

He actually has a couple of childrens books in Greek. He also co-authored a Greek childrens magazine in Greek and English.

John Siolas was born in Arcadia, Greece and came to the United States in the 1960s at age 20. An aunt in the United States sponsored him and his siblings to come over.

He started life here in a pizzeria, but studied at night to get his bachelors degree, then his masters. He taught himself English. He was translating words to Greek to understand what they meant, Dr. Siolas says.

John Siolas wanted to go into medicine but that wasnt an option for him back then because of his socio-economic status, she explains.

Her mother, Catherine Siolas, has a masters in Byzantine history at Queens College. She taught Greek at the college level. Today, shes also a licensed real estate broker and a contributing writer to a local news outlet.

Her mother was born in the United States. So were Dr. Siolas grandparents. It was her great-grandparents who immigrated to the United States from Greece in 1922.

Today, Dr. Siolas carries her heritage with her.

Because both of my parents valued the Greek language, arts and culture they instilled in me a respect for ancient and modern Greek language and culture.

Dr. Siolas is married to Laurentino Ibarra, who works for the Federal Reserve. They have a daughter, Penelope Cleopatra Ibarra, 1-year four-months-old. They plan to raise her with a deep love and appreciation of Greek culture and the church.

Dr. Siolas says her Hellenic background lets her connect with other ethnic groups and understand their role in history and the world. Also, having this connection with Greek Americans, with the Greek people, youre never really alone.

Continue reading here:
Greek-American Doctor's Research Tackles the Tough Armor of Pancreatic Cancer - Hellenic News of America

Three survivors describe what life looks like seven and 15 years out from diagnosis.

Happily, the answer to both questions turned out to be yes. Two weeks after receiving his diagnosis in September, Pantelas had a lobectomy to treat what was believed to be stage 1b disease. However, the surgery revealed a more dire diagnosis: stage 3b with stage 4 lymph node involvement. Pantelas then received radiation every day for 12 weeks and chemotherapy. His oncologist, Dr. Philip Stella, who provides care at Saint Joseph Mercy Health System in Michigan, worked the infusion schedule around the birth of Pantelas daughter that November. Pantelas and his wife named their baby Stella in honor of his doctor.Pantelas has been in remission since completing treatment in April 2006, and Stella now has two younger sisters. This life is not what I expected when I got my diagnosis, Pantelas says. I am grateful for every day with my family.

Still, the going hasnt been easy. Pantelas had to leave his job in information technology when lingering treatment side effects such as sinus infections, bronchitis, pneumonia and a weakened immune system left him ill and fatigued.

No longer able to work, the self-professed workaholic threw himself into volunteerism. Pantelas sits on several institutional review boards for lung cancer research and clinical trials. In September, he traveled to Kenya as a representative of A Fresh Chapter, a nonprofit organization founded by a breast cancer survivor that facilitates volunteer and leadership experiences to empower people affected by cancer. My goal is to learn how the medical community views and treats cancer in Kenya and to see how we can help pediatric cancer patients get the best care, Pantelas says.

Between the volunteer work and caring for his family as a stay-at-home dad, Pantelas has developed a new perspective. I got my lung cancer diagnosis a month after Peter Jennings (a national television news correspondent) died from the disease, he says. I would sit in waiting rooms staring at his pictures on TV and magazines and wonder if his fate was going to be mine.

In 2020, Pantelas will turn 67 the age his dad was when he died. I never would have thought that I would still be here 15 years after getting a lung cancer diagnosis, he says.

TREATMENT BREAKTHROUGHS ADVANCE LIFEAlthough lung cancer remains the leading cause of cancer deaths worldwide, advancements in treatments are helping people like Pantelas live longer and healthier than ever before. Thanks to the advent of genomic tumor testing, weve seen dramatic changes in precision medicineand targeted treatments for non-small cell lung cancer (NSCLC), which is the most common form of lung cancer, says registered nurse Rebecca Lehto, who holds a doctorate in nursing with a neuro-behavior concentration and is a cancer nursing researcher and an associate professor at Michigan State University in East Lansing.

Historically, treatment for advanced lung cancer included chemotherapy and radiation or, more often, a combination of these therapies. Chemotherapy, in particular, was viewed as a one-type-fits-all regimen, with everyone following the same protocol and receiving the same care. Today, people who receive a diagnosis of advanced NSCLC usually first undergo genomic or molecular testing to check for changes or mutations in tumors called oncogenes. Several somatic gene mutations, such as ALK, EGFR and KRAS, are commonly associated with the development of NSCLC and can likely be treated with a targeted therapy drug.

Armed with this information, doctors can tailor a treatment plan that is proven to be most effective against a patients specific mutation. When I started in this field nearly 20 years ago, people with advanced lung cancer were living six to 12 months after diagnosis. Survival rates today are significantly improved, says Dr. Alice Shaw, who holds a doctorate in genetics and is director of thoracic oncology at Massachusetts General Hospital in Boston.

She urges patients to ask her about survival rates instead of searching the internet. Lung cancer is a very complex disease with different types and causes. Most of the statistics online today are outdated and dont apply to a persons unique circumstances, she says. With the incredible progress taking place these days, its almost impossible for anyone to accurately estimate prognosis. I certainly wouldnt put stock in statistical data found online.

FIGHTING FOR LIFE AND A FAMILYNewlywed Emily Bennett Taylor took great pains to avoid online information when she received a stage 4 lung cancer diagnosis in 2012. I was 28 and still in great shape from my years as a college athlete, says the Long Beach, California, resident. Taylor decided to stay positive and have the upper hand against cancer. In her view, dire statistics based on other peoples circumstances would serve no purpose in her very personal fight.While Taylor and her husband, Miles, awaited results of genomic tumor testing, the couple began discussing their future. I had always wanted children, and I didnt want cancer to take my family away from me, Taylor says. Before beginning cancer treatments, she took the first step of in vitro fertilization: having her eggs harvested, fertilized and stored. Taylor hung images of the frozen embryos in the couples home as a reminder that happy times would follow the dark days.

Unfortunately, genomic profiling of Taylors tumors didnt show any known genetic mutations for lung cancer. Without these markers, Taylor wasnt a candidate for the latest targeted therapies that are helping to extend the lives of people with advanced lung cancer. Chemotherapy was her only option, but even after six months of treatment followed by maintenance therapy, the odds of the cancer returning remained too high for comfort. My doctor felt my best chances at having the life I wanted parenting with my husband as we watched our kids grow up was to try something radical like surgically removing the entire lung, Taylor says.

She and her family turned to the GO2 Foundation for Lung Cancer, a nonprofit patient advocacy organization for survivors and their loved ones. The foundation helped Taylor locate a surgeon willing to do an operation that isnt typically done on people with metastatic lung cancer. On February 8, 2013, Dr. Raja Flores, a thoracic surgeon at Mount Sinai in New York City, surgically removed Taylors diseased right lung, the linings of her chest cavity and lung, lymph nodes, a section of her diaphragm and the membrane surrounding her heart. The intensive surgery was followed by 28 rounds of high-dose chest radiation.

After Taylor had done all she could to fight the disease, the couple waited through two years of clean scans before pursuing their dream of parenthood. Scanxiety is definitely very real and difficult to manage, Taylor says. We learned early on to schedule the scans first thing in the morning on a Monday. That way, results often are available by the afternoon. Taylor says meditation visualizing herself healthy and happy spending time with her family helps her cope with scanxiety and the lingering fear of a cancer recurrence.

Through the help of a surrogate, the couple welcomed twin daughters, Hope and Maggie, into the world in April 2016. Hope was a word often used during her treatment, and Taylor was also treated at City of Hope Medical Center. Maggie was named after Taylors great grandmother. Mothering twin babies has been challenging for Taylor, who fatigues easily and requires a lot of rest. When youre used to being active and independent, its hard to admit that you need help doing even routine things like grocery shopping, Taylor says. But once I accepted my new normal and let people in to help, life became more manageable and enjoyable.

When Taylor isnt busy changing diapers and thwarting tantrums, she speaks at GO2 Foundation events and replies to emails from young people facing a similar diagnosis. People find her through her blog, Emily Kicks Cancer. We originally created that site as a way to keep everyone informed about how I was doing with treatments, Taylor says. Now its a way to offer hope to others. When I was diagnosed, there werent a lot of positive stories about people surviving this type of cancer. I want to change that and inspire others to seek out the best medical care so they can fulfill their life dreams.

MAINTAINING HOPEIn 2012, Susan Warmerdam was 47 when she learned she had stage 4 lung cancer. She was relieved when tumor testing showed EGFR and KRAS mutations: That meant her doctors could try new treatments that hadnt been available to her father, who died of complications of the disease in 1999, 10 months after receiving a diagnosis.

Warmerdam began taking Tarceva (erlotinib), an oral targeted therapy drug. At the time, Tarceva was considered experimental as a first-line treatment for lung cancer; it was approved in 2013 by the Food and Drug Administration for patients with advanced NSCLC who had an EGFR mutation. Warmerdam was still in treatment. She also participated in a clinical trial for another drug that researchers hoped would slow or prevent resistance to Tarceva. Atfirst, I was reluctant to join a clinical trial I didnt want to feel like an experiment, says Warmerdam, who lives in Chicago. But then I realized that if other people hadnt participated in the trial for Tarceva, the treatment wouldnt have been available to me. Plus, you never know when the next new drug will be the miracle cure.

For Warmerdam, Tarceva turned out to be her miracle drug. My doctors said I had a stellar and unforeseen response to the drug, she recalls. The tumors shrank so much that she was able to have surgery in 2013 to remove the lymph nodes and adrenal glands where the cancerhad spread. When testing showed no evidence of cancer in the removed tissue, she had a third surgery, a lobectomy, to remove part of her right lung in January 2014. Once again, that tissue showed no evidence of disease. Warmerdam has been off treatments and cancer free ever since.

When I was diagnosed, doctors told me the cancer was inoperable and incurable. I was given a less than 2% chance of living another five years, Warmerdam says. Here I am seven years later, loving life. Had I taken some peoples advice to quit work and check things off my bucket list, I would be broke today healthy, but broke.

Warmerdam credits a large network of family, friends and colleagues for supporting and guiding her through the most difficult time in her life: I immediately reached out to people who could help. I asked a nutritionist friend to revamp my diet. I asked a friend whos a plumber to install water filters throughout my home.

Throughout her treatments, Warmerdam continued to work at a financial investment firm to keep normalcy in her life. She formed a hope-and-healing cancer group at her church. Over the years, with the help of her network, she has raised more than $370,000 for the American Lung Associations lung cancer research efforts.

When people come to me for advice, I tell them I am proof that a lung cancer diagnosis is not a death sentence. Stay positive and hopeful because the next drug you need may be right around the corner, Warmerdam says. But you have to educate yourself so that you can be your own best advocate.

Original post:
Longtime Lung Cancer Thrivers - Curetoday.com

NewsHealthWoman alleges that St George's in London owed her a duty of care to tell her of her father's diagnosis given staff knew she was pregnant

Monday, 18th November 2019, 7:57 pm

A woman is suing a NHS trust for not revealing her father had been diagnosed with Huntington's disease before she had her own child.

The woman, known as ABC, learned by accident that her father carried the gene for the degenerative, incurable brain disorder four months after her daughter was born. She was tested and found she had inherited the Huntington's gene, which means she will eventually develop the disease. Her daughter has not been tested, but has a 50:50 chance of inheriting it.

The woman alleges that St George's NHS Trust, London, owed her a duty of care to tell her of her father's diagnosis, given that doctors there knew she was pregnant. ABC says that had she known about her father's condition she would have had a genetic test and would have had an abortion, rather than allowing her daughter to run the risk of inheriting the disease or having to look after a seriously ill parent.

At the time, ABC and her father were undergoing family therapy organised by the NHS, so she argues that there was an obligation to protect her psychological or physical well-being. The NHS said the case raised competing duty of care and duty of confidentiality issues.

Secret of father's illness

If ABC wins the case, it would trigger a major shift in the rules governing patient confidentiality, and raise questions over the potential duty of care owed to family members following genetic testing.

In 2007, ABCs father shot and killed her mother. He was convicted of manslaughter on the grounds of diminished responsibility and detained under the Mental Health Act. It was suspected that he might be suffering from Huntingtons.

About 8,500 people in the UK have Huntington's disease and a further 25,000 will develop it when they are older. It is a rare inherited disorder which progressively destroys brain cells. Huntington's generally affects people in their prime - in their 30s and 40s - and patients die about 10 to 20 years after symptoms start. Some patients describe it as having Parkinson's, Alzheimer's and motor neurone disease rolled into one.

When his diagnosis was confirmed in 2009 by doctors at the trust, ABC's father told medics he did not want his daughter informed. She had told him she was pregnant and he told doctors he feared she might kill herself or have an abortion.

This case was first argued at the High Court in 2015 when a judge ruled that a full hearing should not go ahead. The judgement said there was "no reasonably arguable duty of care" owed to ABC. But in 2017, the Court of Appeal reversed that decision and said the case should go to trial. Experts say disclosure of personal information, without the consent of a patient, may be justified to prevent exposing others to a risk of death or serious harm.

'Duty of confidentiality'

Emily Jackson, a law professor at the London School of Economics, said: "If a patient doesn't want her doctor to tell her children about her terminal diagnosis, for example, or her HIV status, then it goes without saying that the doctor should respect the patient's confidence.

"The complicating factor with a genetic diagnosis is that it isn't just information about the individual patient, but it also reveals that his or her relatives are at risk. In such circumstances, and where the relative could act upon that information, should the doctor's duty be extended to the patient's close family members?"

A spokesperson for St George's Healthcare NHS Trust said: "This case raises complex and sensitive issues in respect of the competing interests between the duty of care and the duty of confidentiality. It will be for the court to adjudicate on those issues during the trial."

See the original post here:
Mother suing NHS trust after doctors failed to reveal Huntington's disease risk - inews

Osteoarthritis, sometimes called "wear and tear" arthritis, is a common degenerative condition. Doctors can treat osteoarthritis with medication and surgery. People can also manage their symptoms with different exercises and stretches.

Osteoarthritis is the most widespread form of arthritis. The Arthritis Foundation estimate that in excess of 30 million people in the United States have osteoarthritis.

Although osteoarthritis can occur in any joint, it commonly affects the weight-bearing joints, such as the knees and hips.

Read on to find out more about osteoarthritis of the hip. We discuss what causes the condition, how doctors diagnose it, and the different ways to treat it.

Treatments for osteoarthritis focus on reducing pain and improving mobility. Effective ways to treat osteoarthritis include the following:

Pain management is essential for people living with hip osteoarthritis. People can treat mild to moderate pain with over-the-counter pain relievers, such as acetaminophen and nonsteroidal anti-inflammatory drugs (NSAIDs).

People who have moderate to severe osteoarthritis may experience more intense pain. In such cases, prescription pain relief may be necessary.

Some people may require medications to help slow the progression of arthritis or reduce some of the symptoms. Examples of such drugs include:

Corticosteroids

Corticosteroids control inflammation by mimicking the effects of cortisol, a hormone that regulates the immune system.

People can take oral corticosteroid tablets. Doctors can also inject corticosteroids directly into the hip joint. However, corticosteroid injections offer only temporary pain relief. People will require additional injections going forward.

Hyaluronic acid injections

Another potential treatment for osteoarthritis is an injection of hyaluronic acid into the hip joint or another joint that osteoarthritis is affecting.

In 2019, the Food and Drug Administration (FDA) approved a hyaluronic acid injection for treating osteoarthritis of the knee.

Although some doctors have used the injection to treat osteoarthritis of the hip, the FDA has not yet approved it for this use.

Hyaluronic acid injections do not affect everyone in the same way. Some people do not experience any pain relief after receiving the injection. However, approximately 30% of people stay pain free for up to two years, according to the Arthritis Foundation.

Physical therapists are trained healthcare professionals who specialize in diagnosing and treating conditions that limit mobility. People with hip osteoarthritis may benefit from physical therapy sessions.

During the initial session, the therapist will assess the person's physical condition and any specific mobility problems they have. They will then devise a set of tailored exercises to help improve mobility.

The therapist teaches people how to perform each exercise so that they can safely continue their treatment at home. They may also recommend additional treatment options, such as braces, walkers, or hot and cold therapy.

Some people experience severe hip pain or stiffness that significantly affects their quality of life. These people may benefit from surgery.

There are two main surgical options for hip osteoarthritis:

Hip resurfacing

This procedure involves trimming or shaving away damaged bone on the femoral head. The femoral head is the upper end of the thigh bone, which sits inside the hip socket.

After removing the damaged bone, the surgeon covers the femoral head with metal. The surgeon also fits a metal cup inside the hip socket.

Total hip replacement

During this procedure, a surgeon replaces the entire hip joint, including the femoral head and the socket. In their place, the surgeon fits artificial components made of metal, plastic, or ceramic.

Each surgical option carries benefits and risks. A doctor will guide people through the available options before deciding on the best treatment to pursue.

Stem cells are cells that have the potential to develop into a range of different cell types. Researchers are currently looking into whether stem cell therapies could help to replace and regenerate damaged tissues within the human body.

Mesenchymal stem cells are stem cells that can develop into bone and cartilage, among other types of tissue. According to a 2018 review, mesenchymal stem cells could help to repair damaged cartilage and reduce inflammation in knee osteoarthritis.

However, stem cell therapy is not yet ready for use in clinical settings. Advances in gene editing techniques may help overcome many of the limitations currently facing stem cell therapy.

Exercises that may help manage symptoms of hip osteoarthritis include:

Stretching every day can also help to improve flexibility and relieve joint stiffness and pain. Consider the following stretches:

Sitting hip flexion

Sit-stand

Hip opener

Forward fold

People can also perform this stretch from a seated position:

Cartilage is a rubber-like tissue that covers the ends of the bones in the joints. Here, it acts as a cushion that prevents the end of one bone from rubbing against the end of an adjoining one. It also provides lubrication that allows the joint to move easily and painlessly.

In osteoarthritis, the cartilage inside the joints wears away, causing two or more bones to rub together. This process results in joint inflammation, swelling, and pain.

The risk of osteoarthritis increases with age. As people grow older, the cartilage cushions between their joints slowly deteriorate. The symptoms of discomfort and pain tend to worsen as the cartilage continues to break down.

To diagnose hip osteoarthritis, a doctor will take a person's medical history and carry out a physical examination of the joints. The doctor may also order the following diagnostic tests:

See more here:
Hip osteoarthritis: 6 ways to treat it - Medical News Today

For those looking to knock one out of the park, the biotechnology sector frequently provides the catalysts you need. Case in point is Ocugen (NASDAQ:OCGN), a gene therapies provider that specializes in rare eye diseases. Previously a privately held company, OCGN entered into a reverse merger with Histogenics. Essentially, Histogenics shares, HSGX, has become Ocugen stock.

Source: Shutterstock

Under the terms of the deal, Histogenics shareholders collectively hold about 10% of the new, combined company, which will include only Ocugens lean team. Since OCGN stock has been struggling in the markets due to a clinical failure of Histogenics flagship NeoCart therapy a regenerative therapy for treating knee cartilages the reverse merger made sense for Histogenics.

But for Ocugen, the benefits, at least from a scientific perspective was unintuitive. Both companies are involved in cell therapies, but thats where the similarities end. Primarily, Histogenics focused on orthopedics, while Ocugen focuseed on rare eye diseases. You dont have to be a medical doctor to recognize that the human eye is more complex than your foot.

Nevertheless, the appeal for contrarian investors is the vast historical disparity in the Ocugen stock price. A year-and-a-half ago, OCGN stock was firmly trading in three-digit territory. Now, you can get an equity share for well under a buck. Afew years back, the OCGN stock price was above $500. Therefore, a return to $100 isnt that unreasonable, strictly under this context.

At the same time, this price swing emphasizes how incredibly quick fortunes can evaporate. After all, some poor soul bought Ocugen stock as it approached $700 following its initial public offering.

Its this latter sentiment you should focus on if youre considering gambling on OCGN.

One of the main reasons why small biotech firms are so volatile is because they have their eggs in one basket. Typically, theyll have either a single or very few viable therapies. If they pass clinical trials, their shares can soar. Or, they become a buyout target by a big pharmaceutical company.

If they dont, these smaller players usually dont have the resources to stay afloat. Thats the biggest risk hanging over OCGN stock.

If you look at the underlying companys financials, youll see that it doesnt generate any revenues. As a result, theyre relying on grants, cash holdings or equity dilution to keep from drowning. None of these factors are viable for Ocugen stock. Investors are not comfortable with the drug pipeline performance, nor does OCGN have gobs of cash.

As far as using the capital markets, Im not sure how low Ocugen stock can go.

Because of its stretched financials, Ocugen really needs to have high-probability therapies. However, because of the companys focus on rare eye diseases, this places them in a quandary. Usually, rare diseases are incredibly difficult to address. More importantly from an investment perspective, the scale just isnt there.

That may sound cold to those who suffer from these rare conditions. But the reality is, if a biotech firm produces a treatment for rare diseases, it will launch into a limited market. Thus, that firm has no choice but to ramp up prices.

In prior years, biotech firms could get away with this business practice. But with healthcare costs becoming red-hot issue for the 2020 election, the incentive to drive up prices evaporated. So, even if Ocugen did roll out a groundbreaking therapy, they would do so at a very sensitive time.

As someone who takes a more speculative approach to investing, Im not against others following suit. But theres a difference between gambling and being stupid with your money.

I have a tough time appreciating any bull case for OCGN stock. Clearly, the Histogenics portion of the reverse merger hasnt added substantively to Ocugens narrative. From a technical standpoint, share prices dropping below a buck is a serious red flag. Thats especially so for shares that once traded for several Benjamins.

As of this writing, Josh Enomoto did not hold a position in any of the aforementioned securities.

Read the rest here:
Ocugen Stock Is Nothing More than a Risky Trade on Even-riskier Biotech - Investorplace.com

The Food and Drug Administration has halted a clinical trial involving a Duchenne muscular dystrophy gene therapy from Solid Biosciences after a patient suffered serious kidney and blood-related injuries, the company said Tuesday.

This is the third time that the Cambridge-based Solid Biosciences has run into a serious safety problem with its gene therapy. The FDA placed similar clinical holds on the same clinical trial after each prior incident, but later allowed the company to proceed with patient dosing.

The gene therapy uses an inactivated virus to deliver a miniaturized but functional version of the dystrophin gene to muscle cells. The gene therapy is designed to be a one-time and potentially curative treatment for all Duchenne patients, regardless of the mutation that causes their disease.

Sarepta Therapeutics and Pfizer are also developing their own gene therapies targeted at Duchenne.

Six patients have been dosed with Solid Biosciences gene therapy, starting with three at a lower dose; interim results in those patients were previously reported and found to be disappointing. Three more patients were then treated at a higher dose.

The sixth patient became ill soon after being treated in October, experiencing an over-activation of the immune system, an acute kidney injury, reductions in platelets and red blood cells, and cardio-pulmonary insufficiency, the company said.

All of the toxicities were deemed related to the treatment by the patients doctor. The patient is being treated and is recovering, the company said.

Solid Biosciences reported the patients status to the FDA, which then placed the clinical trial on hold. In a statement, the company said it will work with the FDA in an effort to resolve the hold and determine next steps for the clinical trial.

Pfizers Duchenne gene therapy has also been tied to similar immune system over-activation and related kidney toxicity, although its clinical trial remains active.

Adam Feuerstein can be reached at adam.feuerstein@statnews.com.

The rest is here:
FDA halts trial of Duchenne gene therapy treatment from Solid Biosciences - The Boston Globe

The Food and Drug Administration has halted a clinical trial involving a Duchenne muscular dystrophy gene therapy from Solid Biosciences (SLDB) after a patient suffered serious kidney and blood-related injuries, the company said Tuesday.

This is the third time that the Cambridge, Mass.-based Solid has run into a serious safety problem with its gene therapy, called SGT-001. The FDA placed similar clinical holds on the same clinical trial after each prior incident, but later allowed the company to proceed with patient dosing.

SGT-001 uses an inactivated virus to deliver a miniaturized but functional version of the dystrophin gene to muscle cells. The gene therapy is designed to be a one-time and potentially curative treatment for all Duchenne patients, regardless of the mutation that causes their disease.

advertisement

Sarepta Therapeutics (SRPT) and Pfizer (PFE) are also developing their own gene therapies targeted at Duchenne.

Six patients have been dosed with SGT-001, starting with three at a lower dose; interim results in those patients were previously reported and found to be disappointing. Three more patients were then treated at a higher dose of SGT-001.

The sixth patient became ill soon after being treated in October, experiencing an over-activation of the immune system, an acute kidney injury, reductions in platelets and red blood cells, and cardio-pulmonary insufficiency, Solid said.

All of the toxicities were deemed related to SGT-001 by the patients treating doctor. The patient is being treated and is recovering, Solid said.

Solid reported the patients status to the FDA, which then placed the clinical trial on hold. In a statement, the company said it will work with the FDA in an effort to resolve the hold and determine next steps for the clinical trial.

Pfizers Duchenne gene therapy has also been tied to similar immune system over-activation and related kidney toxicity, although its clinical trial remains active.

See the original post here:
Solid's Duchenne gene therapy trial halted after patient suffers toxicity - STAT