Archive for the ‘Gene Therapy Doctor’ Category

Spondyloarthritis is an umbrella term that describes different types of arthritis. These types mainly affect the spine, but they can also cause symptoms in other parts of the body.

There has been some debate about whether spondyloarthritis is an autoimmune condition or an autoinflammatory condition. However, recent research suggests that spondyloarthritis is indeed an autoimmune condition.

This article will explore spondyloarthritis in detail. Specifically, it will examine the different types, symptoms, and treatment options associated with the condition.

There are several subtypes of spondyloarthritis. Each can involve a different part of the body.

The following sections will look at some of these types in more detail.

Ankylosing spondylitis is the most common form of spondyloarthritis. It involves ligaments, tendons, and joint capsules attaching to bones in the spine and peripheral joints.

It can cause the bones in the spine to fuse together, leading to stiffness and immobility.

Learn more about ankylosing spondylitis here.

This type of spondyloarthritis primarily involves the joints in the spine and pelvis.

Axial spondyloarthritis causes back pain and affects around 5.5 million people in the United States.

Like axial spondyloarthritis, the non-radiographic form also affects the spine and causes lower back pain.

However, the effects of non-radiographic spondyloarthritis are not visible on X-rays. They are only visible on more sensitive imaging tests, such as MRI scans.

Peripheral spondyloarthritis describes a number of spondyloarthritis subsets.

It mainly affects the hands and feet. However, it can also cause inflammation in the:

Both rheumatoid arthritis and spondyloarthritis are very common. Although they share some similarities, the conditions also have significant differences.

Spondyloarthritis tends to be more common in males, whereas rheumatoid arthritis is more common in females.

Rheumatoid arthritis symptoms typically start appearing when a person is around 4050 years of age. The symptoms of spondyloarthritis usually occur earlier than this.

The early symptoms of rheumatoid arthritis usually affect the hands and feet. The early symptoms of spondyloarthritis usually start with back pain.

Learn more about the early signs and symptoms of rheumatoid arthritis here.

People often develop spondyloarthritis in their teenage years or 20s. Those with the following characteristics may be more likely to experience spondyloarthritis:

It is important to note that spondyloarthritis is notoriously difficult to diagnose in females. This could mean that it is more common in females than some statistics may show.

Lower back or hip pain is a common early symptom. However, symptoms can vary depending on the type of spondyloarthritis a person has.

Inflammation elsewhere in the body is a symptom of spondyloarthritis. It can especially affect the:

Spondyloarthritis-related inflammation can cause:

Another symptom of spondyloarthritis and the swelling it causes is psoriatic rashes. These may appear differently depending on a persons skin color.

Learn more about psoriasis on black skin here.

These symptoms may be particularly painful first thing in the morning or after periods of rest.

Untreated spondyloarthritis could lead to a person developing the following conditions:

A person who is experiencing symptoms of spondyloarthritis should contact a doctor to treat the condition. This may help prevent these complications.

If a person has had chronic lower back pain since before the age of 40 years, they may have spondyloarthritis. People often assume that they simply have back pain due to poor posture or other mechanical issues.

Because the pain can come and go, some people may assume that the pain is not important. However, not seeking treatment for spondyloarthritis can lead to complications later on.

A person who suspects that they have spondyloarthritis should contact a doctor. They should provide the doctor with details about their pain onset and whether or not they have other inflammatory symptoms that might suggest the presence of spondyloarthritis.

A doctor will diagnose spondyloarthritis by taking a persons medical history and performing a physical exam.

Imaging can help confirm a diagnosis. The doctor may request an MRI scan if an X-ray does not show damage but a person has symptoms that suggest the presence of spondyloarthritis.

A blood test is also available for the HLA-B27 gene, which is a gene associated with the condition. However, testing positive for the gene does not necessarily mean that a person has spondyloarthritis.

The doctor can also perform ESR tests or CRP tests on the blood in order to determine if swelling is present in the body. This can also help diagnose spondyloarthritis.

The doctor may also choose to carry out a complete blood count, to diagnose anemia, or a metabolic panel, to analyze a persons kidney and liver function.

Sometimes, medical professionals can mistake spondyloarthritis for other similar conditions, which can delay diagnosis and treatment. This is especially the case among females.

There is currently no cure for this condition. However, treatment can help relieve the symptoms and slow the progress of the condition.

Some treatment options include:

Biologics are very effective but expensive. These drugs can also increase a persons risk of infection.

Also, physical therapy can help restore range of motion in the affected joints.

One 2020 study involved putting 100 people with axial spondyloarthritis, non-radiographic axial spondyloarthritis, or psoriatic arthritis with axial involvement on physical therapy treatment programs.

The therapy significantly improved the pain that the condition caused, including among those with secondary conditions such as fibromyalgia.

Occupational therapy can also help a person improve or maintain their ability to perform day-to-day activities. An occupational therapist can provide recommendations and assistive devices to help prevent further injury.

Living with spondyloarthritis can make performing certain everyday tasks more difficult, but it is possible to manage the symptoms. Also, the condition does not usually affect a persons life expectancy significantly.

Symptoms such as pain and fatigue may come and go, and treatments can help a person live with this condition.

Some behavioral changes can also make living with spondyloarthritis easier. These changes include:

There are also spondyloarthritis support groups available for people who may need additional support.

Not seeking treatment for spondyloarthritis can lead to complications. Joints can fuse, for example, which may cause severe stiffness or immobility.

The symptoms of spondyloarthritis can come and go. However, even if a person does not constantly experience symptoms, they should still contact a doctor.

Not seeking treatment can lead to more complications of the condition. For example, it could become increasingly painful.

With the right treatment, people with spondyloarthritis can live an active life. Although there is no way to cure the condition, it is possible to manage the symptoms and prevent disease progression.

Making certain behavioral changes and trying medical treatments can make the pain and inflammation of spondyloarthritis more manageable.

Read the rest here:
Spondyloarthritis: Types, symptoms, treatment, and more - Medical News Today

Colon cancer, also called colorectal cancer, is an umbrella term for cancer that starts anywhere in the colon or rectum. The American Cancer Society estimates that there will be 104,270 new cases of colon cancer this year.

Some cases of colon cancer will be MSI-high, or MSI-H, which stands for microsatellite instability-high. It refers to a piece of genetic coding and means theres a lot of instability in the tumor.

Your MSI status gives your doctor an idea of how the cancer will behave. It can also help guide treatment decisions.

MSI-high colon cancer involves tumors with a high amount of instability. It occurs when mismatch repair (MMR) genes, whose job is to correct errors that happen during cell division, stop functioning properly.

When the MMR system is defective, it stops making repairs, allowing errors to accumulate. Thats how a tumor becomes highly unstable.

Doctors will use a tissue biopsy, usually following surgery, to test whether a tumor is MSI-high.

About 15 percent of colon cancer tumors are MSI-high, according to a 2016 study. About 3 percent of these are associated with a hereditary disorder called Lynch syndrome.

MSI-high cancer cells look and behave in an abnormal way. Thats not necessarily a bad thing when it comes to colon cancer, though.

While many cancer cells can easily hide from the immune system, MSI-high cancer cells stand out. That makes it easier for the immune system to recognize them as invaders. They also tend to respond well to treatment.

Treatment for colon cancer depends on several factors, such as the stage and location of the tumors. MSI status can play an important role in forming a treatment plan.

Here are some treatment options for colon cancer:

Surgery can remove many tumors in the colon.

In a procedure called segmental colectomy, the surgeon removes part of the colon, then attaches the ends together. In the early stages of colon cancer, surgery may be the only treatment you need.

Cancer that has spread to other organs or tissues can sometimes be surgically removed as well.

Regional and systemic chemotherapy can help shrink tumors and prevent cancer from spreading. It can be used alone or in combination with other treatments.

Chemotherapy drugs used to treat colon cancer include:

Immunotherapy is a promising treatment choice for many types of cancer. Its a way of strengthening your own immune system to fight cancer.

Three immune checkpoint inhibitors are approved to treat MSI-high metastatic colon cancer. Theyre all given through intravenous infusions.

Two of these drugs can only be used when cancer has progressed after treatment with certain chemotherapy drugs.

In 2017, the Food and Drug Administration (FDA) granted accelerated approval to nivolumab (Opdivo).

A year later, the agency granted accelerated approval to ipilimumab (Yervoy). This drug can only be used in combination with nivolumab, not by itself.

Theres also pembrolizumab (Keytruda). Its a first-line immunotherapy for metastatic MSI-high colon cancer. That means you dont have to try chemotherapy first. It was approved by the FDA in 2020.

In a clinical trial, researchers compared pembrolizumab to chemotherapy as a first-line therapy for MSI-high metastatic colon cancer. Pembrolizumab led to significantly longer progression-free survival. Trial participants who were treated with pembrolizumab also had fewer adverse events than those in the chemotherapy group.

Targeted therapies for colon cancer help prevent tumors from forming new blood vessels. These include:

Theyre administered intravenously, often in combination with chemotherapy.

Other drugs target epidermal growth factor receptor (EGFR), a protein that helps cancer grow. Some treatments include cetuximab (Erbitux) and panitumumab (Vectibix).

For cancer involving BRAF gene mutations, doctors may use targeted therapy drugs such as encorafenib (Braftovi) and regorafenib (Stivarga).

Radiation targets high-energy rays to a specific area of the body. This can help shrink tumors and kill cancer cells.

Treatment options for people with colon cancer have changed a lot in recent years, and theres more to come.

Clinical trials help test innovative new therapies. Ask your doctor about clinical trials that may be a good fit for you.

According to the American Cancer Society, the 5-year relative survival rate for colon cancer is:

Keep in mind that these numbers are based on people diagnosed between 2010 and 2016. Thats before immunotherapies were approved to treat colon cancer. The outlook for people with the disease may be better today.

Outlook may be better in people with MSI-high colon cancer compared with MSI-low cancer. According to a 2018 study on 603 people who had surgery for colon cancer, those with MSI-high cancer had a slightly better survival rate.

While statistics can give you a sense of the outlook for people with colon cancer in general, your personal outlook can be different. It depends on a variety of factors, such as:

Your doctor can review your health history to give you a better idea of what to expect.

MSI stands for microsatellite instability. MSI-high is a subset of colon cancer in which the tumor cells have a lot of instability. These cancer cells look and behave in an abnormal way.

The striking abnormalities make it hard for cancer cells to hide from the immune system. In general, MSI-high colon cancers respond better to treatment than other colon cancers.

Within the last few years, three immunotherapy drugs were approved to treat metastatic MSI-high colon cancers.

Two are for use when cancer hasnt responded to chemotherapy.

The third, pembrolizumab, is now approved as a first-line treatment for metastatic MSI-high colon cancer.

Talk with your doctor to find out which MSI-high colon cancer treatment options are right for you.

More:
MSI-High and Colon Cancer: What It Means, Treatment Options, and More - Healthline

Targeted therapies are medications that block certain molecules that affect cancers ability to grow and spread. They are different from standard chemotherapy and have several potential benefits as a lung cancer treatment.

According to Dr. Timothy Byun, a hematologist and oncologist with the Center for Cancer Prevention and Treatment at St. Joseph Hospital in Orange County, CA, some Food and Drug Administration (FDA)-approved medications target specific genetic mutations that are responsible for lung cancer.

These drugs are often the therapy of choice for people with advanced stage non-small cell lung cancer (NSCLC), said Dr. Byun. NSCLC accounts for an estimated 84% of all lung cancer diagnoses, according to the American Cancer Society.

In general, targeted therapies have higher response rates and [a] longer duration of benefit compared [with] chemotherapy in these patient subsets, said Dr. Byun.

However, targeted therapies also have some potential drawbacks. Dr. Byun explained that, as with chemotherapy, a persons cancer may develop a resistance to these medications. A person may also develop some side effects from taking these medications.

There are several different targeted therapies for people with lung cancer. Individuals should talk with their doctor about which option is best for them.

Here are the most common mutations involved in lung cancer, the targeted therapies that treat them, and some potential side effects related to taking these medications.

Cancerous tumors need a steady blood supply to grow. Angiogenesis inhibitors are a type of long-term medication that targets the blood vessels supporting cancer cells. By blocking the growth of these blood vessels, this targeted treatment can slow or stop the growth of lung cancer.

A doctor is most likely to prescribe bevacizumab (Avastin) or ramucirumab (Cyramza) to treat lung cancer.

Side effects vary based on which part of the blood cells the medication targets. Some common side effects can include:

Serious side effects are more rare. These may include:

Epidermal growth factor receptor (EGFR) is a protein on the outside of cells that controls their growth and division. EGFR genetic mutations can cause too much EGFR to be present on cells, which causes cancer to grow faster.

EGFR mutations affect around 3745% of people with lung cancer who dont smoke and 714% of people with lung cancer who do smoke.

For advanced stage NSCLC with common EGFR mutations, EGFR targeted therapy such as osimertinib is the preferred first line of treatment, said Dr. Byun.

EGFR inhibitors block the signals from EGFR to prevent the growth and division of cancer cells.

Some common EGFR inhibitors for lung cancer include:

Some common side effects of EGFR inhibitors can include:

These side effects can be severe enough that doctors recommend that people stop taking EGFR inhibitors.

For example, said Dr. Byun, if a patient experiences a severe adverse reaction such as interstitial lung disease related to osimertinib, which occurs infrequently, then the medication is discontinued and the patient would be considered for chemotherapy.

According to one 2018 study, most people with lung cancer develop resistance to EGFR inhibitors. This is often because the cancer cells develop new EGFR mutations. One common mutation is called T790M.

Osimertinib (Tagrisso) is a drug that targets cells with the T790M mutation. Side effects of this drug are similar to those of other EGFR inhibitors.

Necitumumab (Portrazza) is an EGFR inhibitor that mimics immune system proteins.

A doctor will give the medication intravenously and will often prescribe it with chemotherapy for people with advanced squamous cell NSCLC. It can cause similar side effects to those of other EGFR inhibitors.

Anaplastic lymphoma kinase (ALK) is a protein that supports cell growth. Some people with lung cancer have a mutation in the ALK gene, which causes more ALK proteins to form. This drives cancer growth and spread.

ALK mutations occur in about 12% of people who dont smoke and 2% of people who currently or who used to smoke.

ALK inhibitors are medications that target cancers with the ALK mutation. Certain people can use them after or instead of chemotherapy.

Some examples of these drugs include:

It is possible to experience side effects from taking this drug, including:

Some more severe and rare side effects include:

The American Cancer Society estimate that 12% of NSCLC cases have a ROS1 mutation, which affects how cancer cells grow and spread.

According to one recent study, ROS1 inhibitors are a well-established targeted therapy for people with a type of NSCLC lung cancer known as adenocarcinoma. Adenocarcinoma accounts for 5060% of lung cancer in people who dont smoke.

If a doctor identifies a ROS1 mutation, they may prescribe one of the following medications:

People can use these medications instead of chemotherapy or when chemotherapy or other therapies stop working.

Some potential side effects may include:

More severe side effects may include:

About 12% of people with NSCLC develop RET gene mutations. These changes affect a protein involved in cell growth, and they often occur with other mutations. As a result, a doctor may prescribe RET-targeting medications with EGFR-targeting medications for the best effect against cancer.

Medications to target RET genes include selpercatinib (Retevmo) and pralsetinib (Gavreto).

Some common side effects can include:

More severe and rare side effects may include:

According to one 2015 study, changes in the mesenchymal-epithelial transition (MET) gene are present in about 5% of lung cancer cases. The MET gene creates the MET protein, which is involved in cell invasion, growth, migration, and metastasis.

Capmatinib (Tabrecta) is the first FDA-approved MET-targeting medication for treating metastatic NSCLC.

Researchers are currently studying many other types of MET-inhibitor, including emibetuzumab, tivantinib, cabozantiniband, and onartuzumab.

Some potential side effects of these drugs may include:

Rarely, these drugs can cause liver damage and swelling or scarring in the lungs.

Recent research suggests that very few people with NSCLC develop an NTRK gene change that can cause the cancer to grow and spread.

Doctors typically prescribe two medications for this mutation in people with advanced lung cancer: larotrectinib (Vitrakvi) and entrectinib (Rozlytrek). Both are typically given when the cancer does not respond to other treatments.

Some potential side effects include:

Some other, less common side effects include:

A number of different drugs provide targeted treatment for many people with lung cancer.

These medications work by honing in on certain mutations in genes involved in lung cancer and stopping the reproduction, growth, and spread of cancer cells.

People may use targeted therapies with, instead of, or following other cancer therapies, including chemotherapy.

Continue reading here:
Targeted therapy for lung cancer: Side effects and more - Medical News Today

Five-year-old Addy, left, and three-month-old Ollie, right, both have the same genetic condition (Facebook)

A family faces a desperate race to raise enough money for their son to have life-saving treatment for a rare disease that will kill his five year-old sister.

The Rasberrys, from the Woodlands, Texas, need help to raise $500,000 for three-month-old Ollie to have treatment on a fatal genetic condition that attacks the central nervous system.

Its what his sister, Addy, aged five, has been suffering with since the age two leaving her unable to move, talk or eat, reports KHOU.

Tragically Addy will tragically die of rare genetic disorder, Metachromatic Leukodystrophy (MLD), but there is still time to save her little brother, Addys family has said.

The childrens mother, Victoria, said: My soul is tired. You know? Im weary, but Im trying to fight the fight and do what I need to do to save his life.

I dont know whats worse I dont know if its watching your child decline and not knowing whats going on or having a child and knowing that they will decline.

Its (the money) overwhelming, is the biggest thing that comes to mind, because we just have so little time to raise so much money.

Victoria added that Addy developed normally until about 15 months of age and then all of a sudden she started having trouble walking.

They visited a doctor for help and it took a long nine months to get Addy a diagnosis of MLD. Thats when Victoria said she learned it may be too late for treatment to save Addy.

They basically told us to go home and spend as much time with her as possible, to go on our Make-A-Wish trip and just enjoy her, she said.

Within two months of her diagnosis, Addy lost the ability to speak, eat and hold her head up.

Theres a lot of grief for what wont be and what she cant do anymore, Victoria added.

Its may sadly be too late for Addy but its not too late for Ollie, who was diagnosed with MLD shortly after birth.

The condition effects around one in every 40,000 babies born each year and is a progressive disease that is passed onto children from their parents via a faulty gene.

Because Addy has the disease, Victoria and her husband Zack knew it was important to test Ollie.

Victoria said: I was devastated, and I knew that we had to act fast.

Now they have the diagnosis Victoria and Zack can focus on giving Ollie the chance of survival via treatment. There is no recognized cure for MLD but theres a gene therapy procedure that has been approved for commercial medical use in Europe that could help.

Victoria said with the recommendation from his doctors in the US, doctors in Italy have agreed to treat him, but treatment has to start before Ollie is six-months-old.

It also costs $500,000 and the family need to raise the cash within the next few weeks. So far they have managed to raise more than $44,000 but need help from members of the public if they are to reach their goal.

To help the Rasberry family pay for Ollies life-saving treatment,click here.

Get in touch with our news team by emailing us at webnews@metro.co.uk.

For more stories like this, check our news page.

Read the rest here:
Baby can be saved from rare genetic disorder - but sister, 5, will die of it - Metro.co.uk

Lung cancer is one disease, but it comes in different forms.

Some lung cancers involve gene mutations that affect how quickly the cancer grows. The anaplastic lymphoma kinase (ALK) mutation is one of those gene changes.

Knowing whether your cancer is ALK positive can help your doctor figure out which treatments will work best against it and what outlook you may expect.

To learn your ALK status, your doctor will remove a sample of your cancer during a biopsy and test it. They will also look for other gene changes that are linked to lung cancer.

ALK is short for anaplastic lymphoma kinase. Its a mutation in the DNA of your lung cells that happens when two genes become fused, or stuck together.

When you have this mutation, your lung cells make too many copies of themselves. These cells are cancerous and can spread to other parts of your body.

About 5 percent of people with non-small cell lung cancer (NSCLC) have the ALK-positive kind. Its most commonly seen in people with the adenocarcinoma type of NSCLC.

About 72,000 people are diagnosed with ALK-positive lung cancer worldwide each year, according to the advocacy group ALK Positive.

ALK-positive lung cancer responds very well to a group of targeted drugs called ALK inhibitors. Chemotherapy and other drugs also work against this cancer.

However it often returns after treatment.

How long a person might live with ALK-positive lung cancer depends in part on its stage at diagnosis. In a 2018 study, people with stage 4 ALK-positive lung cancer lived for an average of nearly 7 years after their diagnosis.

Your type of treatment also matters. People in a 2019 study who took the targeted drug crizotinib (Xalkori) lived longer than those who received chemotherapy.

Your age might also affect your life expectancy, according to 2019 research. Younger people are often diagnosed at a later stage when their cancer is harder to treat. People ages 60 and over sometimes live longer because theyre diagnosed at an earlier stage.

Overall, people with early-stage non-small cell lung cancer are 61 percent as likely as those without cancer to still be alive 5 years later, according to the American Cancer Society. Once the cancer has spread to other organs, five-year survival drops to 6 percent.

Survival rates for ALK-positive lung cancer are slightly better than those for non-small cell lung cancer overall. The aforementioned 2018 study found that people with late-stage ALK-positive disease live for an average of nearly 7 years.

Symptoms might not appear until youve had the cancer for some time and it has spread from your lungs to other parts of your body.

The symptoms of ALK-positive lung cancer are the same as those of other types of lung cancer, including:

Having symptoms like these doesnt mean you have cancer. These types of symptoms are much more likely to be a less serious condition, such as an upper respiratory infection.

But sometimes lung cancer is missed in younger people and nonsmokers because it tends to be more common in older people who smoke. If your doctor cant find another reason for your symptoms, ask for more tests or get a second opinion.

The ALK mutation isnt inherited like the BRCA mutations that cause breast cancer. This gene change happens during your lifetime.

ALK-positive lung cancer is most common in women under age 50 who have never smoked, according to ALK Positive.

People with ALK-positive lung cancer have a gene change that affects the way their lung cells grow and divide.

This type of lung cancer used to be hard to treat, but today there are a group of targeted drugs that are very effective against it.

If youve tried a few different drugs and the treatment youre on is no longer keeping your cancer under control, ask your doctor if you can enroll in a clinical trial of a new therapy.

More here:
ALK Positive Lung Cancer: Life Expectancy, Survival, and More - Healthline

Dr. William N. Kelley, MACP, MACR, Professor of Medicine at the University of Pennsylvania, was recently inducted into the International Association of Top Professionals (IAOTP) Hall of Fame.

Being selected by the International Association of Top Professionals is an esteemed honor, as only 20 IAOTP members are inducted each year into the exclusive Hall of Fame. These special honorees are distinguished by their longevity in their fields, the contributions they have made to society, and the impact they have had on their industries.

With over five decades of professional experience as an Educator, Physician Scientist, and Medical Doctor, Dr. Kelley has undoubtedly proven himself an extraordinary professional and an expert in medical research and education. Dr. Kelley is a dynamic, results-driven leader who has demonstrated success as one of the most respected doctors in America. In the early 1990s at PENN, Dr. Kelley, in his role as Dean of the Medical School and CEO of the Health System (the combination now known as PENN Medicine), began to build a broad research program focused on the creation of gene-based medicine and vaccines as a new method for preventing and curing human disease. While the road was a rocky one over the last three decades, he is proud to note that PENN Medicine is now the global leader in this new field. This includes the two recently FDA approved mRNA vaccines (Moderna and Biontech/Pfizer) to prevent COVID-19 which came from the PENN Medicine research laboratories of Doctors Katalin Kariko and Drew Weissman. He is noted for developing the first fully integrated university-based academic health system in the country at the University of Pennsylvania and expanding the Medical Centers regional footprint by acquiring hospitals and private practices, including Pennsylvania Hospital and Penn Presbyterian Medical Center. Dr. Kelleys impressive repertoire of roles has included Dean of the Perelman School of Medicine, CEO of the University of Pennsylvania Medical Center, and Founding CEO of the Penn Health System (now known as Penn Medicine).

Prior appointments included Professor of Medicine, Associate Professor of Biochemistry, and Chief of Rheumatic and Genetic Diseases at Duke University, followed by Professor of Biological Chemistry and Internal Medicine, and Chair of Internal Medicine with the Medical School at the University of Michigan in Ann Arbor.

Dr. Kelley was known for his breakthrough research and leadership of academic medical programs at Duke and the University of Michigan when he arrived at Penn. During Dr. Kelleys Tenure, the Perelman School became a research powerhouse moving the school into the top 3 rankings for NIH funding. There is now a Professorship named in his honor at the Perelman School of Medicine.

Dr. Kelley earned his Doctor of Medicine at Emory University in Atlanta, GA, in 1963 and subsequently served an internship and residency in Medicine at the Parkland Memorial Hospital in Dallas, TX. He completed his senior residency in Medicine at Massachusetts General Hospital in Boston. Dr. Kelleys other titles have included Clinical Associate in Human Biochemical Genetics with the National Institutes of Health, Educator to Fellow of Medicine at Harvard University, and Macy Faculty scholar at the University of Oxford in England. Later in his career, he received an honorary Master of Arts from the University of Pennsylvania.

The President of IAOTP, Stephanie Cirami, stated, Inducting Dr. Kelley into our Hall of Fame was an effortless decision for our panel to make. In addition to his long list of accomplishments and accolades, he is well regarded and well recognized in academic medicine. We are thrilled to honor him in this way and look forward to celebrating his success with him.

Throughout his illustrious career, Dr. Kelley has received many awards, accolades and has been recognized worldwide for his outstanding leadership and commitment to the profession. He will be honored at IAOTPs 2021 Annual Awards Gala, being held at the Plaza Hotel in NYC for his selection as Top Professor of the Year in Medicine for 2020; he will be inducted on stage at the ceremony for his appointment into the Hall of Fame. In 2018 he received the Albert Nelson Marquis Lifetime Achievement Award. In 2005, Dr. Kelley was presented with the Kober Medal by the Association of American Physicians and the Emory Medal in 2000 from his alma mater, Emory University. He was the recipient of the David E. Rogers Award from the Association of American Medical Colleges, the John Phillips Award of the American College of Physicians, the Gold Medal Award from the American College of Rheumatology, the Robert H. Williams Award from the Alliance for Academic Internal Medicine, and the National Medical Research Award from the National Health Council. Dr. Kelley has been featured in many magazines and publications, including Whos Who in America, Whos Who in Medicine and Healthcare, and Whos Who in the World.

Aside from his successful career, Dr. Kelley is a sought-after lecturer, speaker, and contributor to numerous professional journals and chapters to books. He was the co-inventor of a Viral-Mediated Gene Transfer System, now the most commonly used method today for in vivo gene therapy. Dr. Kelley founded and edited numerous early editions of Kelley and Firesteins Textbook of Rheumatology and Kelleys Textbook of Internal Medicine. He was also editor-in-chief for Essentials of Internal Medicine and co-editor of Arthritis Surgery and Emerging Policies for Bio-Medical Research. Dr. Kelley has served on the Board of Directors for many public companies such as Beckman Coulter, Inc. and Merck & Co., Inc, and has been involved with many committees and subcommittees with the National Institutes of Health. He is a member of the National Academy of Medicine, The American Academy of Arts & Sciences, and the American Philosophical Society.

Looking back, Dr. Kelley attributes his success to his perseverance, his education, his mentors as well as outstanding students and trainees he has had along the way. When not working, he enjoys traveling and spending time with his family. For the future, he hopes that his contributions will continue to improve human health worldwide.

For more information on Dr. Kelley please visit: http://www.iaotp.com

Watch his video: https://www.youtube.com/watch?v=6uhxBnYVY54

About IAOTP

The International Association of Top Professionals (IAOTP) is an international boutique networking organization that handpicks the worlds finest, most prestigious top professionals from different industries. These top professionals are given an opportunity to collaborate, share their ideas, be keynote speakers, and to help influence others in their fields. This organization is not a membership that anyone can join. You have to be asked by the President or be nominated by a distinguished honorary member after a brief interview.

IAOTPs experts have given thousands of top prestigious professionals around the world, the recognition and credibility that they deserve andhave helped in building their branding empires.IAOTP prides itself to bea one of a kind boutique networking organization that hand picks only the best of the best and creates a networking platform that connects and brings these top professionals to one place.

For More information on IAOTP please visit: http://www.iaotp.com

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Dr. William Kelley inducted into IAOTPs Hall of Fame - PRUnderground

Sarah Connell Sanders| Correspondent

Jenna Balestrini is the Head of Strategy and Business Development for Precision Medicine and Cell Bioprocessing at Draper.

What is your connection to the city of Worcester?

Well, I love Worcester. I moved there to do my Ph.D. in 2003. I graduated with a Ph.D. from WPI in 2009. I have to say, those were six of the best years of my life. Worcester is such an amazing place and WPI is such a great school. I've always had a fondness for that city more than pretty much anywhere else I've lived. It's just a very special place filled with really great people.

I was hoping you could talk a bit about your career trajectory, particularly after you finished your Ph.D.

I went to WPI and worked for Kristen Billiar, who is the best advisor anyone could ever ask for. One of our focuses was to understand the environment in cells and around cells. Factors like breathing or stiffness can either stimulate cells or impact cells pathologically and create disease. Or, if you understand a cells environment, you can harness those signals and start to build therapies. You can get cells to make specific proteins and we looked at the fundamentals of that. From there, I did a postdoc in Toronto studying fibrosis with Boris Hinz. Then, I went to Yale and worked for Laura Niklason doing translational medicine work. All of this ties to understanding how we can direct regenerative medicine applications with cells by understanding the cues around them to make different therapies. In 2016, I was at the end of my postdoc and I was trying to think about what to do. I had wanted to be a professor for many years, but towards the end, I realized what I really wanted was to be more translational and be a little bit closer to where the patients and the action are. I had a friend that I met at WPI who recommended I speak to her uncle, Jeff Borenstein, at Draper. I'd never heard of Draper before and I didn't know much about the nonprofit world. He looked at my CV and said, "You know what, you'd actually make a really good fit here."

What can you tell me about Draper?

I came to Draper in 2016. As a nonprofit, Draper reinvests its profits into research. One of the manifestations of that are large internal awards called IRaD, which stands for Internal Research and Development. Within six months, I got an IRaD to build technologies to make the next generation of cell therapy. That project went from concept to commercial pretty quickly. I transitioned into being a business development lead and then the portfolio grew even more, mainly because I work with some really talented engineers, some of whom went to WPI. Ultimately, we partnered with Kite Therapeutics. So what that means is my career in cell therapy literally went from an idea scribbled on a napkin with a colleague, to overseeing a partnership with, in my opinion, one of the best cell therapy companies in the world in just a few years. I am in a completely different space than I ever would have imagined. I had no idea I'd ever go into business or cell therapy and I'm really pleased.

I suspect a lot of great ideas have started on napkins. I'm curious about just the term cell bioprocessing. Can you explain it for someone lacking a science background?

Basically, what we're trying to do is take cells from a patient and modify them to make those cells into therapies themselves. It's a really interesting way to enable a patient to heal themselves. We take your immune system cells and then we genetically modify them with equipment that we've made. The equipment separates the cells from your blood, and then we introduce genes that serve as a set of instructions for your immune system to attack something like cancer. Think of it like taking those cells from the patient, giving them some extra tools to make them "super-powered," to make them better at hunting down and identifying things like cancer, and then putting them back into the patient.

Sounds very futuristic.

So here's the thing, I don't know why this is, but most people don't realize that it's not 10 years from now. It's happening right now. Cell therapy is FDA approved. If you have certain types of leukemia or lymphoma, you can get cell therapy made from your cells to target and kill your cancer. And this is a curative solution. You can get a dose of these cells that have been modified to hunt the leukemia down, or lymphoma down, and then you are cured from that disease.

That's amazing.

We're living in an era where cancer is curable. But now, the thing is, can we take it further? You can identify a unique combination that separates out the thing you're trying to hunt down HIV, hepatitis. You can also use the same tools to rectify genetic diseases like sickle cell anemia or cystic fibrosis. It's just a faulty gene that you can replace, right? Those are the next steps.

What are your hopes for the future?

You know what? I would like people to get excited. Everything I just described is what's called autologous cell therapy we take cells from a patient and do all of this work and it's really expensive to do but the future is something called allogeneic cell therapy, where we can take the same tool to do genetic engineering or modification of cells and knock out all those individual components that make yourself uniquely identifiable to you. From that, you create a universal donor. And you can use that as a starting material to make therapies for everyone. So what that means for you as a patient is that you could come into your doctor's office and find out you have something, let's just say a cancer, and you'll have an off-the-shelf ready-to-go therapy that day, frozen and ready to go for you. I don't think that chemotherapy and radiation are going to last much longer in terms of what the first line of defense is going to be. And they're terrible. The truth is, we are still behind the times with cancer therapy. If you look at the cause of death over the last hundred years, pretty much everything but cancer has gone down. Heart disease, influenza, strokes, but not cancer. This is for a variety of reasons, one of which is that we're living longer. But the thing is, our tools are terrible. We kill people with our drugs. Weve arrived at a moment when we can finally imagine a world where cancer is no big deal.

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Last Call with Jenna Balestrini, the WPI grad treating cancer with cell therapy - Worcester Mag

APikwkanagn First Nation family can now apply for government help to cover a $2.8-million drug that could change the course of their 14-month-old son's life.

"It just gives me this amazing feeling inside that they're willing to potentially help us out and give him what he needs," said Kevin Verch's mother, Dana Pearce, on Friday.

The toddler was diagnosed with spinal muscular atrophy type 2, or SMA2, on Boxing Day. The condition causes muscles to weaken over time, and without treatmentcan prevent patients from walking, feeding themselves or holding their heads up.

The family believes their son'sbest shot at avoiding the most severe effects of SMA2 is a single dose of Zolgensma, which costs $2.8 million. The drug effectively replaces the missing or malfunctioning gene that causes SMA.

Verch's doctor received a letter from the Ministry of Health on Friday morning saying patients whorequire the gene therapy can now apply under Ontario's Exceptional Access Program on a case-by-case basis. The letter, shared withCBC, acknowledges patients like Verchare facing "unique circumstances" given the astronomically high cost of the drug.

Zolgensma should be administered to patients as soon as possible after they're diagnosed with SMA. Pearce said herson requires a dose before he turns two in November.

Until mid-December 2020, families could apply for a free dose from the drug maker'smanaged access program.When Health Canada approved the drug on Dec. 16, 2020, however, Novartis ended the lottery program for residents in Canada.

Thatleft families on their ownto figure out how to pay for the drug themselves as provinces and territoriesfinalize details aroundcoverage.

"It gives us a lot of hope, and we're glad that they're starting to realize that there are quite a few babies in Canada that are struggling with this," said Pearce.

The boy's family started a GoFundMe page to raise money for his treatment, and plans to continue raising fundsin case Ontario denies the family's application.

"This is just a hope, not a guarantee," Pearce said.

If the province agrees to pay for the drug, the family is considering using the money they've raisedto covertravel costs for Verch's appointments at CHEO, as well as any mobility devices he may requirein the future. They may also donate some of the money to other families dealing with SMA.

Pearce and Verch's father are both in their early 20s, and both earnminimum wage.

As of Friday afternoon, the family's GoFundMe page has raised more than $81,000 toward their goal of $2.8 million.

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Province gives family facing $2.8M drug bill a glimmer of hope - CBC.ca

Cancer cells pose an uncanny ability to make new cells and dodge drugs, "somewhat like would-be robbers hacking the bank's alarm code," one doctor explains. But researchers at Cincinnati Children's Hospital Medical Center have figured out how cancer cells rewire themselves and, in turn, how to possibly overcome drug resistance.

This drug resistance may explain why some acute myeloid leukemia (AML) and other cancer patients suffer fatal relapses despite many improvements in leukemia outcomes over the years, according to a Children's news release.

"Overcoming resistance to therapy remains a holy grail of leukemia treatment," says Yi Zheng, Ph.D., director, experimental hematology and cancer biology at Cincinnati Children's. Zheng and his colleagues have now discovered a way to boost the effectiveness ofmTOR inhibitors, which prohibit unwanted cell proliferation.

"While the latest study is based on mouse models, building upon the findingspublished Dec. 21, 2020, in PNASeventually could improve outcomes for people with AML, and possibly other forms of cancer," a release says.

What Happens When Treatments Target mTOR?

"Using a novel mouse model, we have learned that deleting the mTOR gene prompts blood stem cells to multiply rapidly to open other pathways to continue producing new blood cells," says Zheng, the study's senior author. "We also found that leukemia cells use a similar response to continue multiplying despite mTOR-inhibiting treatments."

He says attacking mTOR essentially sets off alarms among hemopoietic stem cells (HSCs), which act like blood cell factories deep in bone marrow. Then the cells themselves produce a flood of new, re-wired blood cells. These re-wired stem cells, treated with mTOR inhibitors, can begin multiplying, rendering mTOR inhibitor drugs useless.

The co-authors say mTOR treatment resistance can be counteracted by inhibiting activity of the MNK, CDK9 or c-Myc genes. So-called BET inhibitors can act against c-Myc activity. Other inhibitors that are in clinical trials can act against CDK9.

Next Steps

Scientists at Cincinnati Childrens have already launched some of the research needed to prepare the combination therapies for in vivo test leading to human clinical trials, the news release says. That process will take time, but since mTOR inhibitors have been widely tested in clinical trials, investigators have a head start on exploring combination therapies.

Longer term, the findings may extend beyond AML, Zheng says, because mTOR has been a recognized target in most human cancers, including solid tumors like brain tumors.

Link:
New Combination Therapy Tested By Children's May Offer Hope For Leukemia Patients - WVXU

Meet John.

Hes 6. He lives with his family on a small farm in Washington, Iowa. He likes to fish he can bait his own hook and take off his own catch. He likes to climb trees. Hes as solid as any 40-pound wrestler youll meet.

And hes walking down a path thats just as bright as it may be dark.

Johns losing his vision and his hearing. Its happening slowly, and could take years.

So for now, Johns practicing single-leg takedowns and sprawls. Hes building elaborate train sets and playing oranges and lemons on the piano. Hes sitting on his dads lap to help drive the tractor.

We want him to get as much experience in certain things as he can while he can soak them up, his mom, Heather Koch, told The Gazette.

Because this isnt a story about a medical miracle. It isnt a story about some novel discovery sparking new hope for John and his family although discovery is happening.

Its a story about a more remarkable kind of hope. The kind that persists without groundbreaking advancements. The kind that isnt reliant on good news.

The kind that lives in the stark reality that is theirs.

He was born Feb. 4, 2014, and he was perfect.

His older brother, Gus, had died five years earlier at just 1 month old on Jan. 8, 2009, from Zellweger syndrome, a rare congenital disorder. His older sister was born healthy in 2012. And John came after.

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He was totally normal, Heather said. Everything was fine. He passed his newborn hearing screen.

But as John grew, she and her husband, Greg Koch, began wondering if something was off. As their 18-month-old John would go toddling down the hall in the predawn hours, Heather would try whispering him to her.

I would poke my head out of my room and I would say, quietly because everyone else was still sleeping, John, John, come here, come here, and he would keep on walking, she said. He just wasnt hearing me.

John would press musical toys hard against his ear desperate to hear their song. He also wasnt saying much besides mama, dada, and uh oh.

So when John was 2, they drove him to Cincinnati Childrens Hospital and learned he had moderate hearing loss. Because the cause was unknown, the family had John checked for a catalog of possible culprits.

Usher syndrome was on that list, Heather said.

Results would take a while, so the family returned home and eased back into their routine. Until eight weeks later, on June 23, 2016, when Heathers phone rang. She was by herself, on her way to meet her mom and sister to go shopping.

It was gut-wrenching, she said. I called Greg right away, but there was no hiding it from my mom and sister a few minutes later. So they and the rest of our families all knew that day also.

John had genetic mutations amounting to Usher syndrome type 2A.

They said he will slowly lose his hearing and his vision for the rest of his life, Heather said.

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Before getting the news, she hadnt done a lot of research on all the possible causes of Johns hearing loss.

Were not the panic type of people, so we were praying, she said. But not panicking.

They carried that mentality with them into their new reality with John which, while devastating, enabled a deeper understanding of how they could support him.

Like giving him new hearing aids. The moment John put them in, Heather said, he could hear their whispers.

He looked right at us, she said, adding, Those next few days were amazing. He could hear the chickens for the first time. And he could hear the airplanes in the sky for the first time. Big things for a 2-year-old.

The family addressed his vision troubles with new glasses, which opened to some degree a new world for John, who spent the next two years in speech therapy learning to talk like everyone else.

Once I caught seven fish in a row, John told The Gazette, showing off his storytelling skills. First cast, I caught one. Second cast, I caught one. Third cast, caught one. Fourth cast, caught one. Fifth cast, caught one. Sixth cast, caught one. Seventh cast, caught one. Like, I just cast it and reeled it in, and I just kept catching fish.

The Kochs dont have a precise picture of Johns long-term prognosis, but University of Iowa ophthalmic genetics professor Arlene Drack said patients with Ushers develop retinitis pigmentosa, a progressive type of vision loss, typically in their teens.

She reported a huge amount of research going on at the University of Iowa and around the world on how to replace or repair the genes that cause (retinitis pigmentosa).

We hope there will be a gene therapy that will help John in the future, Drack said.

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World-renowned UI Institute for Vision Research Director Edwin Stone is among those paving the way in groundbreaking research that he believes will work for patients like John.

Were hoping to have some gene and stem cell therapy that will work for this condition in this childs lifetime, he said. So I think that theres reason for optimism.

For now, Heather and Greg are heeding doctor warnings that Johns hearing and vision will continue to fade.

Theyre telling us it probably will, Heather said. Theyve been given symptoms to watch out for like trouble seeing at night.

They said he will start stumbling over things in the dark, he wont be able to see the stars in the sky, Heather said. And we have just started seeing some of the night vision symptoms.

The guessing is hard. John might trip over something in the garage and Greg will find himself wondering if its the syndrome.

How do you know? he said. Is he a 6-year-old kid whose mind gets ahead of where his feet are going? Or is it part of it? You just dont know what is what, and youre always thinking, Is that a sign?

They fight off paranoia with hope, like hope for expanding research and new technology, and by homing in on their vision for a normal life.

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Hes going to have some things to overcome, Heather said. Our job, I think, is to teach him to be tough enough to overcome those things. Because whats the alternative?

They acknowledged some things might be different or difficult for their son like driving.

So he drives now, Greg joked about his co-pilot in the field.

But theyre not raising John differently from their four other kids all of whom have tested negative for Ushers.

And, being so young, John doesnt yet know the full weight of his diagnosis.

I think one thing we probably will say is, this is just the hand you were dealt. And its not going to stop you from living your life, or accomplishing anything, or being the best person that you can be, Heather said. We will expect the same out of him that we do of all our other kids.

But they acknowledged, someday John will ask.

And he deserves to know, Greg said. But its not fair to make a 6-year-old carry that burden in its full weight like we have to carry it.

And they do.

If theres a day where hes displaying a symptom of something, thats heavy, Heather said. So you just carry that on that day.

But largely they stay optimistic.

Johns going to have the best life no matter what, she said, citing his involvement in a sport they believe will help make that possible. Thats part of wrestling.

John has been wrestling since age 3. And hes good.

He goes to Husky Wrestling Club in Riverside and started going to Big Game Wrestling Club in North Liberty, too, around age 5.

John is a light, said Big Game Chief Executive Officer and Coach Dylan Carew. His fight, courage, and personality are inspiring.

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The family is close friends with Mike Zadick, a UI All-American wrestler in the early 2000s who went on to have a successful international wrestling career.

Zadick was Heathers neighbor when they both lived in Solon and, Heather said, He and his family have become family to us.

Having seen John in matches and meets, Zadick told The Gazette, hes got a natural feel for the sport.

At a young age, 4 or 5 years old, he had real natural movement, Zadick said. It was like, Wow, look at this. You can tell when a kid has a natural feel.

Not only is John well-suited for the sport, its well-suited for him in the skills it instills might become particularly relevant as he ages.

Wrestling, the word itself, its constant work and battle and struggle, Zadick said.

Echoing that sentiment, Carew said, Adversity is every day with wrestling.

So when it comes to someone with a challenge beyond normal, what better sport?

Johns physical obstacles which may be seen by some as disabilities have actually given him an edge on the mat, according to Carew.

You can tell he focuses a lot more to details, he said. He pays more attention because he needs to.

John has to wrestle without his hearing aids or glasses leaving him reliant on skills hell increasingly lean on as he loses more of his sight and hearing.

Without those supports, Greg before matches warns officials his son cant hear them.

They need to communicate with him by touching him and using hand signals, Heather said. He usually cant hear the whistle.

But largely, when Johns on the mat, hes like any other kid. Hes fighting for take downs and escapes. Hes learning to accept losses a skill that could become especially helpful as John matures into a braver understanding of the hand hes been dealt.

Were going to make him as mentally strong as possible, so he can carry it to when he gets big enough to carry that burden, Heather said.

Take last spring, when a 38-pound John found himself in the third-place bout in the kindergarten bracket at AAU Super Pee Wee State.

I was so tired I almost fell asleep during the match, John said.

Exhausted and hurting, he barely made it into his stance before the official whistled the start of the overtime period.

But I kept wrestling, wrestling, wrestling, John said.

From the side of the mat, Heather shouted, John, youre tough bud.

And he was, holding off his opponents shot and getting behind him for two points, before jumping into his moms arms with a well-deserved sense of accomplishment one sense hes in no danger of losing.

Comments: (319) 339-3158; vanessa.miller@thegazette.com

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This 6-year-old Iowa boy is losing his vision and hearing. But his family holds on to hope. - The Gazette

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The genes in your bodys cells play an important role in your health indeed, a defective gene or genes can make you sick.

Recognizing this, scientists have been working for decades on ways to modify genes or replace faulty genes with healthy ones to treat, cure or prevent a disease or medical condition.

Now this research on gene therapy is finally paying off. Since August 2017, the U.S. Food and Drug Administration has approved three gene therapy products, the first of their kind.

Two of them reprogram a patients own cells to attack a deadly cancer, and the most recent approved product targets a disease caused by mutations in a specific gene.

What is the relationship between cells and genes?f

Cells are the basic building blocks of all living things; the human body is composed of trillions of them. Within our cells there are thousands of genes that provide the information for the production of specific proteins and enzymes that make muscles, bones, and blood, which in turn support most of our bodys functions, such as digestion, making energy, and growing.

Sometimes the whole or part of a gene is defective or missing from birth, or a gene can change or mutate during adult life. Any of these variations can disrupt how proteins are made, which can contribute to health problems or diseases.

In gene therapy, scientists can do one of several things depending on the problem that is present. They can replace a gene that causes a medical problem with one that doesnt, add genes to help the body to fight or treat disease, or turn off genes that are causing problems.

In order to insert new genes directly into cells, scientists use a vehicle called a vector which is genetically engineered to deliver the gene.

Viruses, for example, have a natural ability to deliver genetic material into cells, and therefore, can be used as vectors. Before a virus can be used to carry therapeutic genes into human cells, however, it is modified to remove its ability to cause an infectious disease.

Gene therapy can be used to modify cells inside or outside the body. When its done inside the body, a doctor will inject the vector carrying the gene directly into the part of the body that has defective cells.

In gene therapy that is used to modify cells outside of the body, blood, bone marrow, or another tissue can be taken from a patient, and specific types of cells can be separated out in the lab. The vector containing the desired gene is introduced into these cells. The cells are left, to multiply in the laboratory, and are then injected back into the patient, where they continue to multiply and eventually produce the desired effect.

Before a company can market a gene therapy product for use in humans, the gene therapy product has to be tested for safety and effectiveness so that FDA scientists can consider whether the risks of the therapy are acceptable in light of the benefits.

Gene therapy holds the promise to transform medicine and create options for patients who are living with difficult, and even incurable, diseases. As scientists continue to make great strides in this therapy, FDA is committed to helping speed up development by prompt review of groundbreaking treatments that have the potential to save lives.

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What Is Gene Therapy? How Does It Work? | FDA

I have heard about people using genes to treat diseases nowadays, but I am not sure what this gene therapy means.

Gene therapy involves trying to alter or modify the genes inside your bodys cells in order to treat or stop a disease.

Since 2017, the US Food and Drug Administration (FDA) has approved three different types of gene therapy.

Maybe we can start at the beginning: what are genes?

Genes are the basic physical and functional unit of heredity.

Our genes are made out of DNA (deoxyribonucleic acid).

Each person has two copies of each gene one inherited from your mother and the other inherited from your father.

Each human being has around 20,000 to 25,000 genes.

These genes code for the way your body and mind are structured.

Some genes act as instructions (a blueprint) for your body to make various proteins, which in turn form your cells and organs, and the enzymes and hormones that regulate your body.

Other genes do not code for proteins.

Most genes are the same for all human beings, which is why we all look like human beings (and not a kangaroo, fish, bird or an alien)!

However, just under 1% of our genes vary slightly between each person.

That is why we have different races, heights, propensity for different diseases, curly or straight hair, etc.

These small differences also contribute to why we all look different from one another.

Genes that dont work as they should also cause diseases in the human body.

What types of diseases are caused by faulty genes?

These are what we call genetic disorders.

A genetic disease is any type of disease caused by an abnormality in our genetic blueprint.

This abnormality can range from very minor to significantly major.

What we consider minor is, for example, a small mutation in the DNA of a single gene resulting in the change of a single base protein.

What we consider major is a gross chromosomal abnormality, such as the addition of a whole chromosome or the subtraction of one.

Some genetic disorders are inherited from our parents.

Others are caused by mutations due to our environment.

Examples of single gene disorders, which are caused by the alteration of just one gene in our bodies, are:

Examples of multifactorial inheritance, which are caused by a combination of environmental factors and mutations in many of our genes, are:

If we inherited these genes from our parents, then how can we possibly modify or alter them? This sounds terribly like science fiction.

We are rapidly approaching that era where what used to be science fiction could become part of our everyday life.

In gene therapy, scientists can:

How do they do this? Do they have to harvest my cells? Im scared just thinking about it!

Many of the vectors are viruses, especially adenoviruses (not coronaviruses!).

Viruses have a natural ability to deliver genetic material into our cells.

After all, their main purpose is to attach themselves to cells and reproduce themselves.

Sometimes, the vector or virus is injected straight into our bodies, where they will deliver the gene that will modify our cells.

They are injected straight into the part of our body that has those defective cells.

Other times, we have to harvest healthy tissue from our body that needs to be modified.

These are usually tissues containing immune cells or stem cells, e.g. blood or bone marrow.

These tissue samples are then taken to the lab and specific cells are separated out.

The viral vector containing the corrective gene is then introduced to the harvested cells in the lab.

The modified cells are left to multiply, and then injected back into us.

Once inside our bodies, they will continue to multiply and eventually treat the disease or correct the defect within us.

Learn more about gene therapy in the next Tell Me About column on Dec 31 (2020).

Dr YLM graduated as a medical doctor, and has been writing for many years on various subjects such as medicine, health, computers and entertainment. For further information, email starhealth@thestar.com.my. The information contained in this column is for general educational purposes only. Neither The Star nor the author gives any warranty on accuracy, completeness, functionality, usefulness or other assurances as to such information. The Star and the author disclaim all responsibility for any losses, damage to property or personal injury suffered directly or indirectly from reliance on such information.

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What is gene therapy? - The Star Online

Vichhika Taing with Autumn Love Photography

My goal in life is to see my two boys, who are now 5 and 7, graduate from high school. That might not seem like a lot, but at one point I wasnt even sure if I would see them start kindergarten.

Around four years ago, when I was 38 and the kids were about 1 and 3, I noticed I was walking with a limp and had a lot of back pain. But I dont like to complain, so I just kept going. Then one day, I was tandem breastfeeding my boys and I felt a lump in my breast. I wasnt that surprised, because I had an overabundance of milk and had experienced lots of clogs in my milk ducts. I asked my lactation consultant about it, and she sent me to see my primary care doctor.

My primary care doctor wasnt overly concerned, but because my mother was then a 13-year breast cancer survivor, I had a mammogram just to be safe. Having a mammogram while youre breastfeeding is crazyit was so painful, and I showered the machine with milk! They also did a diagnostic ultrasound that day, and then referred me for a biopsy. I had a hunch something might not be right, but I didn't let myself go into full on panic mode yet.

I was one bad step away from that bone shattering, and had to have surgery right away.

It was March 8, 2017 when I found out I had breast cancer, and after that it was like boom, boom, boom, things happened so fast. I had a lumpectomy and started chemo, and then a whirlwind of scans and appointments. I was soon told I had Stage IV metastatic breast cancer that had already spread through my blood to my bones. The reason I was limping was that there was a 5 cm tumor in the middle of my right femurI was one bad step away from that bone shattering, and had to have surgery right away to place titanium rods into both of my thighbones.

I haven't had enough time with my kids! That was my very first thought when the doctor told me the median life expectancy for metastatic breast cancer is 2 to 3 years. They were so young that I was legitimately concerned that they wouldnt even remember me. All I wanted was more time to spend with them.

When I first was diagnosed, my breast surgeon did genetic testing for the BRCA 1 and 2 gene mutations, both of which substantially raise your risk of breast cancer. Those were negative. But once we realized how advanced my cancer was, I had the full genetic panel done. In 2017, there were 40 genes known to be associated with breast cancer. And it came up that I was positive for a mutation in the ATM gene, which not only increases the risk for breast cancer and pancreatic cancer in women, but also prostate cancer in men. Of course, I let everyone in my family know what my genetic testing found, and a lot of relatives have now tested for ATM. Several are positive, and a sister and cousin of mine had prophylactic (preventative) double mastectomies, which dramatically reduces their risk of breast cancer. Genetic testing really had a huge effect on my entire family.

Abigail Johnston

The genetic testing also identified four somatic mutation (those caused randomly or due to environmental factors, not genetics), including PIK3CA. I was elated to learn that PIK3CA has an actionable treatment right now, but Im glad that I know about the other ones, despite the lack of treatment options. It means I can watch for new medications that might help down the line. Luckily, there is lots of research in the works.

My oncologist told me it was the closest I had come to being at No Evidence of Active Disease (NEAD).

In August 2019, after two years on the first drug, a PET scan showed that my cancer had mutated and the drug I was using was no longer effective. Since I had already gotten tested for PIK3CA, I was able to start a brand-new drug that was targeted to that mutation right away. But after several months on that second drug, another scan showed that the cancer in my bones was becoming more metabolically active, so I added another drug to my regimen. There are a lot of side effects, but its worth it to keep my cancer in check.

My most recent PET scan showed that this combination of drugs is working. I am currently stablemy medical oncologist told me it was the closest I had come to being at No Evidence of Active Disease (NEAD). It was the best scan Ive had in three and a half years.

Cancer has definitely changed things. I was really active before my diagnosis, and my boys are very high-energy, but now we do a lot more sedentary things, like crafts and science projectsthey love anything thats really messy, like slime and paint. We live in Miami, so we also spend a lot of time in the pool, which is great, because theyre like little fish, and I do a lot of my physical therapy in the water. On days when Im not feeling well, we have a lot of cuddles and snuggles in bed.

Abigail Johnston

The hardest thing is that I cant move too quickly or grab my kids if they run out in the middle of the street, so we have a baby-sitter to help with that. And since having cancer is just all-around challenging, about three years ago, my family moved in with my parents, so my mom can help out, too. My husband, Elliot, has also been amazing. He is so patient, loyal, consistent, and kind.

Ive met the first big goal I set when I was diagnosed, which was to see both my boys enter kindergarten! Now we have 12 more years until my younger son graduates high school, and Im feeling hopeful that a medication targeted to my body and my cancer will get me there.

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What It's Like Rising A Little Boy With Advanced Breast Cancer - Oprah Mag

Good afternoon, and welcome health colleagues to the first European Alliance for Personalised Medicine (EAPM) update of the week, as we move delightedly towards Christmas. EAPM has just released a leading paper on gene therapy more of this below, along with the customary updates, writes EAPM Executive Director Denis Horgan.

ATMPs push forward prospects for tackling severe disease

EAPM has released a paper on gene therapy, based on its recent policy discussion, Propelling Healthcare with Advanced Therapy Medicinal Products.Challenges confront the sector, complicating the translation from research into patient access. Scientific, clinical development and regulatory issues are compounded by limited experience with clinical and commercial use, limited manufacturing know-how, high costs, and difficulties in accessing development funding and investment.

Pricing and reimbursement and market access issues are an additional challenge, particularly in Europe, where unfamiliarity with the technology and uncer- tainty over the use of real-world evidence induce caution among clinicians, health technology assessment bodies and payers. There is a need for a review of the suitability of the regula- tory and market access framework for these products, focused development of data, public/ private partnerships, and fuller collaboration governments, doctors, insurers, patients, and pharmaceutical companies.

This paper makes specific recommendations for allstakeholders, ranging from early dialogue on potential products, linking of clinical data, and patient registries or standardization of control frameworks, to a comprehensive approach to evidencegeneration, assessment, pricing, and payment for ATMPs.The paper isavailable here.

5.1 billion secured for EU Health Programme

On 14 December, the biggest ever EU Health Programme and the rules to distribute its 5.1 billion funds were agreed. Negotiators of the European Parliament and EU member states struck a deal on the law setting up the European Unions so called 'EU4Health' Programme from 2021 onwards.

"The COVID-19 pandemic has revealed that Europe was not equipped to deal with a serious health crisis. During the first peak of the pandemic, we not only lacked doctors, nurses and medical staff, but also medicines and medical equipment. It must never happen again that a doctor must choose who lives or dies because the hospital does not have resources to help all," said the EPP Group's Cristian Silviu Buoi MEP, the lead negotiator for the European Parliament and a stronger support of EAPM.

"Therefore, the programme will allocate funds for the establishment of a reserve for essential crisis-relevant products, medical and healthcare staff, in synergy and complementarity with other EU instruments," he added. Requisite to the health programme that Buoi negotiated is an increase in health funding in the new EU long-term budget.

The EPP Group also wanted the programme to support the training of health staff, reduce health inequalities, support digitalization in the health-care sector, finance a masterplan against cancer and bring back the production of medicines to Europe.

WHO does not envisage COVID-19 vaccines being made mandatory

The World Health Organization (WHO) does not foresee countries making it mandatory for citizens to take the new COVID-19 vaccines which have been developed, an official said. I dont think we envisage any countries creating a mandate for vaccinations, Kate OBrien, the WHOs director of immunization vaccines and biologicals, told a news conference.

Pressure mounts on EU drug regulator to approve COVID-19 vaccine

Europes drug regulator is under increasing pressure to quickly approve the COVID-19 vaccine developed by Germanys BioNTech, officials said, as inoculations get started in Britain and the United States. The push underscores the frictions between regulators and governments wishing to curb the pandemic that has killed more than 1.6 million people worldwide. Four EU sources said that the European Medicines Agency (EMA) has been under pressure from the European Commission and EU governments to approve vaccines more quickly. One EMA official said on 14December that pressure had increased on the agency from EU governments through usual channels of communications after 2 December, when the British regulator granted an emergency authorization to the Pfizer/BioNTech vaccine.

UK health secretary announces discovery of new coronavirus variant

UK Health SecretaryMatt Hancock appeared in the House of Commons on Monday (14 December) to give an urgent statement to MPs on the coronavirus pandemic in the UK. He said experts haveidentified a new variant of COVID-19 which may be responsible for the "faster spread" in south-east England.

Hancock said: "Over the last few days, thanks to our world-class genomic capability in the UK, we have identified a new variant of coronavirus which may be associated with the faster spread in the south of England."

He added: "Initial analysis suggests that this variant is growing faster than the existing variants. We've currently identified over 1,000 cases with this variant predominantly in the South of England although cases have been identified in nearly 60 different local authority areas."

When asked if the new variant will impact the effectiveness of the vaccine, Hancock said: "The medical advice that we have is that it is highly unlikely that this new variant will impinge the vaccine and the impact of the vaccine. But we will know that in the coming days and weeks as the new strand is cultured at Porton Down and then the tests conducted upon it.

WHO a touch more circumspect

The World Health Organization is aware of the new variant of COVID-19 that has emerged in Britain, but there is no evidence the strain behaves differently to existing types of the virus, it said onMonday (14 December).We are aware of this genetic variant reported in 1,000 individuals in England, the WHOs top emergencies expert Mike Ryan told a news briefing in Geneva. Authorities are looking at its significance. We have seen many variants, this virus evolves and changes over time.

FDA authorizes vaccine following extreme Trump pressure

The US Food and Drug Administration (FDA) on Friday (11 December) gave emergency use authorization to the nations first coronavirus vaccine, launching what scientists hope will be a critical counteroffensive against a pathogen that has killed more than 290,000 Americans, shredded the nations social and political fabric and devastated the economy.

The historic authorization of thevaccine from Pfizer and BioNTech for people age 16 and older, just 336 days after the genetic blueprint of a novel coronavirus was shared online by Chinese scientists, sets in motion a highly choreographed and complex distribution process aimed at speeding vaccines throughout the United States to curb the pandemic.

US President Donald Trump had put the FDA under extreme pressure to approve thevaccine, describing the organization as a slow, old turtle in a tweet. The FDA action came after White House Chief of Staff Mark Meadows on Friday told FDA commissioner Stephen Hahn to be prepared to submit his resignation if the agency did not clear the vaccine by days end, according to people familiar with the situation who spoke on the condition of anonymity because they were notauthorized to discuss what happened.

And that is everything for the start of the week from EAPM dont forget to check our gene therapy paperhere,have an excellent week.

See original here:
EAPM Advancing gene therapy with Advanced Therapy Medicinal Products - EU Reporter

Locanabio, a San Diego gene therapy company focused on treatments for severe neurodegenerative diseases such as Huntingtons and Lou Gehrigs disease, has raised $100 million in a second round of venture capital funding.

The Torrey Pines Mesa company will use the money for further pre-clinical and clinical development of its proprietary RNA-targeting system to fight degenerative diseases including myotonic dystrophy type 1 and retinal disease, along with Huntingtons and genetic ALS.

Locanabios approach is to combine two methods for treating diseases gene therapy and RNA modification. The platform consists of several RNA-targeting systems that are combined with gene therapy delivery to modify dysfunctional RNA.

The capabilities of the platform could allow Locanabio to develop treatments for a wide range of genetic diseases beyond those on its current roadmap.

This financing positions us to accelerate our efforts to advance multiple promising programs into (new drug) studies in 2021 and to further develop our novel RNA-targeting platform, which has the potential to be a major new advance in medicine that can bring hope to patients with many devastating genetic diseases, said Chief Executive Jim Burns in a statement.

Burns joined Locanabio in December 2019 from Casebia, where he served as the chief executive and led the team in developing CRISPR-based therapeutics to treat blood disorders, blindness and heart disease. Before that, he spent the bulk of his career at Sanofi-Genzyme, where he held several leadership roles.

This latest financing was led by Vida Ventures. Other new investors participating include RA Capital Management, Invus, Acuta Capital Partners and an investment fund associated with SVB Leerink.

Prior investors ARCH Venture Partners, Temasek, Lightstone Ventures, UCB Ventures and Google Ventures also participated. Lonanabio previously raised $55 million in May 2019.

As part of the funding round, Rajul Jain, a medical doctor and director of Vida Ventures, will join Locanabios board of directors.

The unique approach in RNA targeting using gene therapy to deliver RNA binding proteins developed by Locanabio represents the next frontier of genetic medicine with the ability to target the root cause of a range of genetic diseases, said Jain in a statement. They have built a strong management team to execute this bold vision, and we are proud to support them.

See the article here:
San Diego's Locanabio raises $100 million for treatments aimed at degenerative diseases - The San Diego Union-Tribune

Good afternoon, and welcome health colleagues to the first European Alliance for Personalised Medicine (EAPM) update of the week, as we move delightedly towards Christmas. EAPM has just released a leading paper on gene therapy more of this below, along with the customary updates, writes EAPM Executive Director Denis Horgan.

ATMPs push forward prospects for tackling severe disease

EAPM has released a paper on gene therapy, based on its recent policy discussion, Propelling Healthcare with Advanced Therapy Medicinal Products.Challenges confront the sector, complicating the translation from research into patient access. Scientific, clinical development and regulatory issues are compounded by limited experience with clinical and commercial use, limited manufacturing know-how, high costs, and difficulties in accessing development funding and investment.

Pricing and reimbursement and market access issues are an additional challenge, particularly in Europe, where unfamiliarity with the technology and uncer- tainty over the use of real-world evidence induce caution among clinicians, health technology assessment bodies and payers. There is a need for a review of the suitability of the regula- tory and market access framework for these products, focused development of data, public/ private partnerships, and fuller collaboration governments, doctors, insurers, patients, and pharmaceutical companies.

This paper makes specific recommendations for allstakeholders, ranging from early dialogue on potential products, linking of clinical data, and patient registries or standardization of control frameworks, to a comprehensive approach to evidencegeneration, assessment, pricing, and payment for ATMPs.The paper isavailable here.

5.1 billion secured for EU Health Programme

On 14 December, the biggest ever EU Health Programme and the rules to distribute its 5.1 billion funds were agreed. Negotiators of the European Parliament and EU member states struck a deal on the law setting up the European Unions so called 'EU4Health' Programme from 2021 onwards.

"The COVID-19 pandemic has revealed that Europe was not equipped to deal with a serious health crisis. During the first peak of the pandemic, we not only lacked doctors, nurses and medical staff, but also medicines and medical equipment. It must never happen again that a doctor must choose who lives or dies because the hospital does not have resources to help all," said the EPP Group's Cristian Silviu Buoi MEP, the lead negotiator for the European Parliament and a stronger support of EAPM.

"Therefore, the programme will allocate funds for the establishment of a reserve for essential crisis-relevant products, medical and healthcare staff, in synergy and complementarity with other EU instruments," he added. Requisite to the health programme that Buoi negotiated is an increase in health funding in the new EU long-term budget.

The EPP Group also wanted the programme to support the training of health staff, reduce health inequalities, support digitalization in the health-care sector, finance a masterplan against cancer and bring back the production of medicines to Europe.

WHO does not envisage COVID-19 vaccines being made mandatory

The World Health Organization (WHO) does not foresee countries making it mandatory for citizens to take the new COVID-19 vaccines which have been developed, an official said. I dont think we envisage any countries creating a mandate for vaccinations, Kate OBrien, the WHOs director of immunization vaccines and biologicals, told a news conference.

Pressure mounts on EU drug regulator to approve COVID-19 vaccine

Europes drug regulator is under increasing pressure to quickly approve the COVID-19 vaccine developed by Germanys BioNTech, officials said, as inoculations get started in Britain and the United States. The push underscores the frictions between regulators and governments wishing to curb the pandemic that has killed more than 1.6 million people worldwide. Four EU sources said that the European Medicines Agency (EMA) has been under pressure from the European Commission and EU governments to approve vaccines more quickly. One EMA official said on 14December that pressure had increased on the agency from EU governments through usual channels of communications after 2 December, when the British regulator granted an emergency authorization to the Pfizer/BioNTech vaccine.

UK health secretary announces discovery of new coronavirus variant

UK Health SecretaryMatt Hancock appeared in the House of Commons on Monday (14 December) to give an urgent statement to MPs on the coronavirus pandemic in the UK. He said experts haveidentified a new variant of COVID-19 which may be responsible for the "faster spread" in south-east England.

Hancock said: "Over the last few days, thanks to our world-class genomic capability in the UK, we have identified a new variant of coronavirus which may be associated with the faster spread in the south of England."

He added: "Initial analysis suggests that this variant is growing faster than the existing variants. We've currently identified over 1,000 cases with this variant predominantly in the South of England although cases have been identified in nearly 60 different local authority areas."

When asked if the new variant will impact the effectiveness of the vaccine, Hancock said: "The medical advice that we have is that it is highly unlikely that this new variant will impinge the vaccine and the impact of the vaccine. But we will know that in the coming days and weeks as the new strand is cultured at Porton Down and then the tests conducted upon it.

WHO a touch more circumspect

The World Health Organization is aware of the new variant of COVID-19 that has emerged in Britain, but there is no evidence the strain behaves differently to existing types of the virus, it said onMonday (14 December).We are aware of this genetic variant reported in 1,000 individuals in England, the WHOs top emergencies expert Mike Ryan told a news briefing in Geneva. Authorities are looking at its significance. We have seen many variants, this virus evolves and changes over time.

FDA authorizes vaccine following extreme Trump pressure

The US Food and Drug Administration (FDA) on Friday (11 December) gave emergency use authorization to the nations first coronavirus vaccine, launching what scientists hope will be a critical counteroffensive against a pathogen that has killed more than 290,000 Americans, shredded the nations social and political fabric and devastated the economy.

The historic authorization of thevaccine from Pfizer and BioNTech for people age 16 and older, just 336 days after the genetic blueprint of a novel coronavirus was shared online by Chinese scientists, sets in motion a highly choreographed and complex distribution process aimed at speeding vaccines throughout the United States to curb the pandemic.

US President Donald Trump had put the FDA under extreme pressure to approve thevaccine, describing the organization as a slow, old turtle in a tweet. The FDA action came after White House Chief of Staff Mark Meadows on Friday told FDA commissioner Stephen Hahn to be prepared to submit his resignation if the agency did not clear the vaccine by days end, according to people familiar with the situation who spoke on the condition of anonymity because they were notauthorized to discuss what happened.

And that is everything for the start of the week from EAPM dont forget to check our gene therapy paperhere,have an excellent week.

Continue reading here:
Italy needs new restrictions to avoid third, devastating COVID-19 wave - PM to paper - EU Reporter

While breast cancer is usually considered a disease that only affects women, anyone with breast cells and tissue can be diagnosed with breast cancer, males included. Even so, male breast cancer is rare.

"This isn't a disease that's 'just for women.' Patients often don't realize this which can, unfortunately, lead to delays in diagnosis," says Abisola Olulade, MD, a family medicine physician at Sharp Rees-Stealy Downtown in San Diego, California. "In the United States, male breast cancer represents between 0.5% and 1.0% of all breast cancers diagnosed each year. This means that about one out of every 100 breast cancers diagnosed in the United States is found in a man."

In this article we'll discuss the most common forms of male breast cancers, its symptoms, and potential risk factors.

Male breast cancer occurs when malignant cells form in the tissues of the breast. Common forms of male breast cancer include:

Unfortunately, doctors are still unsure of the exact causes of breast cancer, though genetics and increased levels of estrogen may be risk factors.

In particular, increased estrogen is associated with conditions like liver disease, obesity, and certain hormone therapies like anti-androgen therapy, says Monisha Bhanote, MD, a triple board-certified physician and cytopathology specialist in Jacksonville Beach, FL. where she runs her own private practice.

"Hereditary causes may include BRCA2 mutation carriers, PTEN mutation (Cowden syndrome), and CHEK2 mutation carriers," says Bhanote

BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are genes that are related to breast cancer risk. While everyone has both BRCA1 and BRCA2 genes, some people inherit a gene mutation in one or both of these genes. This mutation increases the risk of developing breast cancer.

"Men with BRCA mutations are recommended to have annual screening," says Bhanote. "Examination for any masses, nipple discharge, or skin dimpling/puckering on a daily basis will

be helpful."

Additional factors that may increase a person's risk are medications such as antidepressants, marijuana, and radiation from cancer treatment.

Male breast cancer spreads in the same way that female breast cancer spreads, through the lymphatics and blood vessels. An estimated 520 men will die from breast cancer this year.

Signs and symptoms of male breast cancer can include:

While finding a lump on one or both of your breasts can be alarming, finding a lump doesn't necessarily mean that you have breast cancer. It could be gynecomastia or enlarged breast tissue.

Though gynecomastia has many causes, liver disease and drugs or medications that contain high doses of testosterone account for about 25% of gynecomastia cases, according to Harvard Men's Health Watch.

Gynecomastia is often benign and resolves on its own. That being said, it's still a good idea to see your doctor if you notice any lumps or changes, especially if you're experiencing pain or discomfort.

Because men are less likely to receive a mammogram, it's important to learn how to perform a male self-breast examination. As a patient, it's imperative to become familiar with your body so you can advocate for yourself and notice when changes occur. Here's a quick step-by-step guide on how to self-check your breasts at home:

You can also check your breasts while lying down. To do this, set a pillow underneath your right shoulder and bend your right arm over your head. Use the fingertips of your left hand to check all areas of your breast and armpit. Once you're finished, switch the pillow to your left shoulder and repeat this process.

If you're uncomfortable doing a self-breast examination, or you fear that you're not doing it correctly, ask your physician to perform a clinical breast exam for you. Depending on how the examination goes, your physician may order a mammogram, an ultrasound, or an MRI.

If you're diagnosed with male breast cancer, your treatment plan will depend on how far the cancer has spread. Practicing monthly self-breast exams, in addition to receiving a breast examination by your physician, could improve your chances of detecting breast abnormalities early. Early detection is the key to successful treatment.

Possible treatments for male breast cancer include:

Although researchers can't pinpoint the causes of breast cancer in men, they have found a few risk factors.

Risk factors that may lead to developing male breast cancer include:

"Unfortunately, there isn't anything you can do to prevent male breast cancer," says Nicholas Jones, MD, FACS. "However, you can lower your risks by being active, and limiting your alcohol consumption."

In addition, avoiding hormonal supplements, such as sexual performance enhancement supplements, may help to prevent male breast cancer. According to a 2019 study, the use of hormonal male enhancement supplements can lead to the higher levels of androgens, which may cause the growth of tumors.

Though the likelihood of developing male breast cancer is low, it's important to pay attention to your body. If you notice any changes in your skin color, new rashes, lumps, or bumps, you should seek medical help right away.

"There isn't a great screening tool for men," Jones adds. "The best action is to know your body, live a healthy lifestyle and if you notice anything out of the norm, visit your doctor. Specifically for male breast cancer, any change involving the nipple may be a sign that there is an underlying cancer."

View post:
Yes, men can get breast cancer here are the symptoms to watch for - Insider - INSIDER

The COVID-19 lockdown had brought some cheer for Andheri-based Kamat couple as they welcomed their first child - Teera - on August 14. But soon things went awry when their daughter was diagnosed with a rare genetic disorder - Spinal Muscular Atrophy (SMA). Three-month-old Teera's parents - Mihir, 35, and Priyanka Kamat, 33, have been doing everything possible for their daughter's treatment but the biggest challenge for them is to raise '16 crore for a single shot of gene therapy, the only way she can survive.

Teera with her parents Mihir and Priyanka Kamat

Teera has been diagnosed with SMA Type 1, which is said to be a more serious form of the disorder. Speaking to mid-day, Mihir, who works for a software company, said, "Teera was born a happy and cheerful baby. As weeks went by, we noticed she was having heavy breathing patterns and it would also take a long time to feed her. Very soon, she developed multiple issues like severe dehydration, heavy breathing, choking on feeds etc, and we finally found a doctor in our area who recommended we start bottle feeding."

"On the day of her vaccination (September 30), her doctor noticed that she was choking on her first drops of vaccine. She was also not being able to resist with her hands and the right leg wasn't moving," Mihir recalled.

"The doctor referred us to a paediatric neurologist who mentioned that Teera might have hypotonia, slow reflexes, paradoxical respiration and a weak cry. Following her EMG and genetic test, we got to know that she is suffering from SMA Type 1. The next shock was the cost of the drug, which needs to be imported from the United States. Teera needs it before she turns six months old, the golden period to save her. We started doing a bit of research on the disorder and found out about some foreign nationals who have written positively about the treatment and how they could 'crowd fund' such a large sum by registering on a similar platform," added Mihir.

"We registered our daughter's details with crowd funding platform Impact Guru and in less than a month 8,187 donors contributed nearly '2.36 crore, said the couple. Mihir further said, "Our consulting paediatric neurologist Dr Neelu Desai has already registered Teera for the Switzerland HQ Novartis pharma company global lottery, where selected registered patients get the drug free of cost." "Just three weeks ago Teera had to be rushed to Holy Spirit hospital in Andheri East, as she got choked during her feed and turned pale. She had to be kept at the hospital for the next couple of days," her father said.

SMA is a progressive, rare genetic disease that is caused by missing genes or those that don't work properly, which might be survival motor neuron 1 (SMN1). This gene is basically the blueprint responsible for making a protein required for the survival of the spinal nerve cells. Without this SMN gene the cells in the body start to die and motor neuron cells become weaker thus causing muscle weakness in every part of the body below the neck.

Piyush Jain, co-founder and CEO of ImpactGuru.com, said, "In one month, 8,187 donors have contributed '2.36 crore. This is Impact Guru's highest single fundraiser. Among the donors is a noted Bollywood actor, who donated '5 lakh We are currently working towards ensuring the target is met by all means."

Dr Neelu Desai

Dr Desai said, "Teera is one of the youngest patients I'm treating at the moment. If she doesn't get the special gene therapy, then she might survive for about two years. Until last five years, there was no treatment for SMA, but now we have gene therapy, for which Teera has been registered."

She further said, "This is a rarest of rare disorder (1 in 5,000 infants suffer from it world over). In case a baby does not develop proper motor skills or his/her body feels very soft then parents should consult paediatricians. Parents who have a child with SMA, have 25 per cent chances of the same disorder developing in the subsequent pregnancies, which can be confirmed in the first few months by doing a genetic test."

Link to the fundraiser - https://www.impactguru.com/fundraiser/donate-to-teera

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See the article here:
Mumbai: Baby with genetic disorder needs Rs 16 crore therapy to live - Mid-day

MedicalResearch.com Interview with:

Steven Pipe, MDProfessor of Pediatrics and PathologyLaurence A. Boxer Research Professor of Pediatrics and Communicable DiseasesPediatric Medical Director, Hemophilia and Coagulation Disorders ProgramDirector, Special Coagulation LaboratoryUniversity of Michigan

MedicalResearch.com: What is the background for this study?

Response: Hemophilia B is an inherited bleeding disorder where patients are missing clotting factor IX (9), a critical blood clotting protein.Patients with a severe deficiency are at risk for traumatic and spontaneous bleeds primarily into joints.Repeated bleeding into joints causes more than acute pain and swelling but also leads to inflammatory and degenerative changes in joints that eventually leads to severe debilitating arthritis that can be crippling.To try to prevent this, patients as young as infants are placed on regular infusions of clotting factor IX concentrates.The relatively short half-life of factor IX means patients must infuse on average once to twice a week.These can only be delivered intravenously parents and then patients themselves have to learn this.Prophylaxis must be continued lifelong to try to prevent bleeding events and protect joint health over the lifespan.This is a tremendous burden on the patient and their caregivers.

Even with regular prophylaxis, joint bleeds may still occur and arthropathy may still ensue.This is because the blood levels often reach critically low levels prior to the next infusion.Gene therapy aims to deliver a functional copy of the factor IX gene such that the patients own liver will make a continuous supply of factor IX that is delivered to the bloodstream.At steady state with levels close to or within the normal range, patients would no longer be subject to bleeding events and would not require prophylaxis any longer.We hope that such a one-time treatment would produced durable, functionally curative levels of factor IX.

MedicalResearch.com: What are the main findings?

Response: The 3 key takeaways are:

MedicalResearch.com: What should readers take away from your report?

Response: I think it is best to characterize this as a treatment that liberates patients with hemophilia from the burden of repeated prophylactic infusions of clotting factor to protect them from recurrent bleeding events.Gene therapy offers a chance to have steady state levels of factor in the blood that would eliminate risk for spontaneous and even traumatic bleeding events.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: These are very encouraging results maximizes eligibility for patients by being able to treat in the presence of pre-existing neutralizing antibodies.Results are in a range that allow for cessation of prophylaxis and continued bleed protection.Results appear to be durable through the follow up period to date.The 26 week endpoint was a co-primary endpoint.The other endpoints are factor IX activity at 52 weeks and annualized bleeding rate over the 52 weeks post-dosing. Those endpoints should be analyzed in 2021 and decisions could then be made on submission for regulatory review.

MedicalResearch.com: Is there anything else you would like to add? Any disclosures?

Response: This could be potentially clinical practice changing, if approved. This looks to be a transformative therapy for patients and could be an option for patients across the adult lifespan we treated patients from age 19 through 75. Our patient population have been looking forward for a long time for a one-time therapy like this that would provide lasting protection from bleeds.

I have served as a paid consultant to uniQure and chair the Steering Committee for the global clinical trial program

Citation: ASH2020 Oral Abstract

First-in-Human Gene Therapy Study of AAVhu37 Capsid Vector Technology in Severe Hemophilia A BAY 2599023 has Broad Patient Eligibility and Stable and Sustained Long-Term Expression of FVIII

Steven W. Pipe, MD1, Francesca Ferrante, MD2*, Muriel Reis3*, Sara Wiegmann4*, Claudia Lange5*, Manuela Braun5*and Lisa A Michaels6*https://ash.confex.com/ash/2020/webprogram/Paper139803.html

The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.

12

View post:
Gene Therapy Liberates Hemophilia B Patients from Requiring Regular Infusions of Clotting Factor - MedicalResearch.com

Touro College of Osteopathic Medicine Middletown student Atif Towheed, Ph.D., is researching the health care provider's role in vaccination

Please can you share a couple of your top findings to date?

One of the most significant findings was the need for more education about vaccination. Respondents said this was a need they had for themselves as well as for their patients. We also confirmed the widespread belief that social media plays a critical role in patients decision-making when it comes to vaccines. Additionally, we learned that practitioners confidence levels in discussing vaccines with patients varied significantly between rural and urban areas, with more confidence in urban settings.

What are some of the key factors that pose barriers to vaccination?

Our research showed that key factors posing barriers to vaccination include lack of education on vaccines, fear of becoming sick after vaccination, parental or patient hesitancy, and safety concerns. There are ways to combat these barriers by increasing awareness through patient-provider interactions, including discussions about the risks and benefits of vaccines during patient interactions on routine visits. Based on these findings, we recommend an education program tiered to target health professionals at various levels of their education and careers.

How did you come to research this topic?

The study was initiated in summer 2019 after a noted outbreak of measles in and around our community. Our team of five includes faculty and students at TouroCOM, Middletown and a representative from the Orange County Department of Health. The work grew out of a discussion about the critical importance of vaccination for preventing illness. Under the supervision of Dr. Stephanie Zeszutek, clinical associate professor in the Department of Primary Care, we considered how vaccines also help lower health care costs, especially given the increasing number of vaccine-preventable diseases in the United States.

Others have looked into the relationship between vaccination rates and the education and views/beliefs of health care providers. How is your study different?

Most studies have focused specifically on patient populations. Although there are reports on health care providers views and beliefs, most of them are limited either to specific vaccines or to examining specific health care provider categories. Our study covers views and perspectives on most of the vaccines available in the U.S. We also have a very diverse survey population of health care workers and students.

Please share your background and how you became interested in science.

I was born and raised in India. My parents are both zoologists - my father is an endocrinologist, and I spent a lot of time in his lab learning from him. My mother is an assistant professor of sericulture (the study of silkworms). Their work made enough of an impression on me that I decided to pursue science; at the same time, I like to interact with people, so medical practice was always in the back of my mind.

After receiving my masters degree in biotechnology in India, I joined a U.N. research lab where I studied viruses, including the now-infamous SARS coronavirus. In 2009, I came to the U.S. to earn my Ph.D. at the University of Pittsburgh School of Medicine, after which I accepted a postdoctoral fellowship at The Childrens Hospital of Philadelphia (CHOP).During these years of research, I studied and evaluated gene therapy for mitochondrial diseases, including a potential treatment for Leber Hereditary Optic Neuropathy, an inherited form of vision loss.

How did you finally end up in medical school and at TouroCOM?

During my research and training, I was always associated with hospitals, collaborating with physicians, and talking about patients. I wanted to interact with patients directly, but the final decision to apply to medical school came when my son was born and suffered birth trauma. His doctor was a DO at CHOP, and her management of his care was holistic and inspiring, leading me to finally apply - and to DO schools. My wife often travels to New York City on business, so we wanted to find a school nearby. I attended an open house at TouroCOM and loved the school and the faculty. Im grateful to TouroCOM for giving me the chance to follow my passion.

See the rest here:
Vaccination in the Era of Covid - Touro College News

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced that new data from the pivotal Phase III MURANO and CLL14 studies support the efficacy of fixed-duration, chemotherapy-free Venclexta (venetoclax)-based combinations in certain people with chronic lymphocytic leukemia (CLL) and provide more evidence on the potential value of minimal residual disease (MRD). Data were presented at the all-virtual 62nd American Society of Hematology (ASH) Annual Meeting and Exposition on Saturday, December 5, 2020.

These results reinforce the long-term value of fixed-duration, chemotherapy-free Venclexta-based combinations in CLL, potentially offering patients a significant period of time without treatment following initial therapy, said Levi Garraway, M.D., Ph.D., chief medical officer and head of Global Product Development. These data also reflect our ongoing commitment to accelerating clinical advancements for patients by exploring the novel endpoint minimal residual disease as a potential predictor of patient outcomes.

Five-year data from the pivotal Phase III MURANO trial continue to show sustained investigator-assessed progression-free survival (PFS) with Venclexta plus Rituxan (rituximab). Data, presented in an oral session, showed:

Data from the Phase III CLL14 study contributes to growing evidence regarding the potential of MRD measurements to predict future outcomes for certain people with previously untreated CLL who were treated with fixed-duration Venclexta plus Gazyva (obinutuzumab):

Exploring novel endpoints, such as MRD, is an important area of development for Genentech, which continues to investigate Venclexta in a robust clinical development program. This includes the Phase III CRISTALLO trial in previously untreated CLL, which uses MRD as a primary endpoint.

Venclexta is being developed by AbbVie and Genentech, a member of the Roche Group. It is jointly commercialized by the companies in the United States and commercialized by AbbVie outside of the United States.

*Minimal residual disease (MRD) is a measure of the number of remaining cancer cells. Undetectable MRD (uMRD), sometimes referred to as MRD-negativity, means that no cancer cells could be detected using a specific and highly sensitive test, and is defined as less than one cancer cell in 10,000 leukocytes.

About the MURANO Study

MURANO [NCT02005471] is a Phase III open-label, international, multicenter, randomized study evaluating the efficacy and safety of fixed-duration Venclexta (venetoclax) in combination with Rituxan (rituximab) compared to bendamustine in combination with Rituxan (BR). All treatments were of fixed duration. Following a five-week dose ramp-up schedule for Venclexta, patients on the Venclexta plus Rituxan arm received six cycles of Venclexta plus Rituxan followed by Venclexta monotherapy for up to two years total. Patients on the BR arm received six cycles of BR. The study included 389 patients with chronic lymphocytic leukemia, with or without 17p deletion, who had been previously treated with at least one line of therapy. Patients were randomly assigned in a 1:1 ratio to receive either Venclexta plus Rituxan or BR. The primary endpoint of the study was progression-free survival. Secondary endpoints included overall survival, overall response rate and complete response rate (with or without complete blood count recovery).

About the CLL14 Study

CLL14 [NCT02242942] is a randomized Phase III study evaluating the combination of fixed-duration Venclexta (venetoclax) plus Gazyva (obinutuzumab) compared to Gazyva plus chlorambucil in adult patients with previously untreated chronic lymphocytic leukemia (CLL) and co-existing medical conditions. 432 patients with previously untreated CLL were randomly assigned to receive either a 12-month duration of Venclexta alongside six-month duration of Gazyva (Arm A) or six-month duration of Gazyva alongside 12-month duration of chlorambucil (Arm B). Arm A started with an initial dosing of Gazyva followed by a five-week Venclexta dose ramp-up to help reduce the risk of tumor burden. The primary endpoint of the study is investigator-assessed progression-free survival (PFS). Secondary endpoints include PFS assessed by independent review committee, minimal residual disease (MRD) status, overall response rate, complete response rate (with or without complete blood count recovery), overall survival, duration of response, event-free survival, time to next CLL treatment, and safety. MRD-negativity, or undetectable MRD, means no cancer can be detected using a specific and highly sensitive test, and was defined as less than one cancer cell in 10,000 leukocytes. The CLL14 study is being conducted in cooperation with the German CLL Study Group, headed by Michael Hallek, M.D., University of Cologne.

About CLL

Chronic lymphocytic leukemia (CLL) is the most common type of adult leukemia. In the United States, it is estimated that more than 20,000 new cases of CLL will be diagnosed in 2020. Although signs of CLL may disappear for a period of time after initial treatment, the disease is considered incurable and many people will require additional treatment due to the return of cancerous cells.

About Venclexta

Venclexta is a first-in-class targeted medicine designed to selectively bind and inhibit the B-cell lymphoma-2 (BCL-2) protein. In some blood cancers and other tumors, BCL-2 builds up and prevents cancer cells from dying or self-destructing, a process called apoptosis. Venclexta blocks the BCL-2 protein and works to restore the process of apoptosis.

Venclexta is being developed by AbbVie and Genentech, a member of the Roche Group. It is jointly commercialized by the companies in the United States and commercialized by AbbVie outside of the United States. Together, the companies are committed to research with Venclexta, which is currently being studied in clinical trials across several types of blood and other cancers.

In the United States, Venclexta has been granted five Breakthrough Therapy Designations by the U.S. Food and Drug Administration (FDA): one for previously untreated CLL, two for relapsed or refractory CLL and two for previously untreated acute myeloid leukemia.

Venclexta Indications

Venclexta is a prescription medicine used:

are 75 years of age or older, or have other medical conditions that prevent the use of standard chemotherapy.

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

Important Safety Information

What is the most important information patients should know about Venclexta?

Venclexta can cause serious side effects, including:

Tumor lysis syndrome (TLS). TLS is caused by the fast breakdown of cancer cells. TLS can cause kidney failure, the need for dialysis treatment, and may lead to death. The patients doctor will do tests to check their risk of getting TLS before they start taking Venclexta. The patient will receive other medicines before starting and during treatment with Venclexta to help reduce the risk of TLS. The patient may also need to receive intravenous (IV) fluids into their vein.

The patients doctor will do blood tests to check for TLS when the patient first starts treatment and during treatment with Venclexta. It is important for patients to keep appointments for blood tests. Patients should tell their doctor right away if they have any symptoms of TLS during treatment with Venclexta, including fever, chills, nausea, vomiting, confusion, shortness of breath, seizures, irregular heartbeat, dark or cloudy urine, unusual tiredness, or muscle or joint pain.

Patients should drink plenty of water during treatment with Venclexta to help reduce the risk of getting TLS.

Patients should drink 6 to 8 glasses (about 56 ounces total) of water each day, starting 2 days before the first dose on the day of the first dose of Venclexta, and each time a dose is increased.

The patients doctor may delay, decrease the dose, or stop treatment with Venclexta if the patient has side effects. When restarting Venclexta after stopping for 1 week or longer, the patients doctor may again check for the risk of TLS and change the patients dose.

What patients should not take Venclexta?

Certain medicines must not be taken when the patient first starts taking Venclexta and while the dose is being slowly increased because of the risk of increased TLS.

Before taking Venclexta, patients must tell their doctor about all of their medical conditions, including if they:

What to avoid while taking Venclexta:

Patients should not drink grapefruit juice or eat grapefruit, Seville oranges (often used in marmalades), or starfruit while they are taking Venclexta. These products may increase the amount of Venclexta in the patients blood.

What are the possible side effects of Venclexta?

Venclexta can cause serious side effects, including:

Patients should tell their doctor right away if they have a fever or any signs of an infection during treatment with Venclexta.

The most common side effects of Venclexta when used in combination with obinutuzumab or rituximab or alone in people with CLL or SLL include low white blood cell count; low platelet count; low red blood cell count; diarrhea; nausea; upper respiratory tract infection; cough; muscle and joint pain; tiredness; and swelling of arms, legs, hands, and feet.

The most common side effects of Venclexta in combination with azacitidine or decitabine or low-dose cytarabine in people with AML include nausea; diarrhea; low platelet count; constipation; low white blood cell count; fever with low white blood cell count; tiredness; vomiting; swelling of arms, legs, hands, or feet; fever; infection in lungs; shortness of breath; bleeding; low red blood cell count; rash; stomach (abdominal) pain; infection in your blood; muscle and joint pain; dizziness; cough; sore throat; and low blood pressure.

Venclexta may cause fertility problems in males. This may affect the ability to father a child. Patients should talk to their doctor if they have concerns about fertility.

These are not all the possible side effects of Venclexta. 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 see the Venclexta full Prescribing Information, including the Medication Guide, for additional Important Safety Information.

Rituxan Indications

Rituxan (rituximab) is a prescription medicine used to treat adults with:

Important Safety Information:

Rituxan can cause serious side effects that can lead to death, including:

What should patients tell their doctor before receiving Rituxan?

Before receiving Rituxan, patients should tell their doctor if they:

What are the possible side effects of Rituxan?

Rituxan can cause serious side effects, including:

TLS can happen within 12 to 24 hours after an infusion of Rituxan. The patients doctor may do blood tests to check for TLS. The patients doctor may give medicine to help prevent TLS. Patients must tell their doctor right away if they have any of the following signs or symptoms of TLS:

The patients doctor will stop treatment with Rituxan if they have severe, serious, or life-threatening side effects.

What are the most common side effects during treatment with Rituxan?

Other side effects include:

These are not all of the possible side effects with Rituxan.

Please see the Rituxan full Prescribing Information, including the Medication Guide, for additional Important Safety Information at http://www.Rituxan.com.

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.

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.

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Genentech Announces New Data Reinforcing the Long-Term Benefit of Venclexta-Based Combination for People With Relapsed or Refractory Chronic...

Medicare provides coverage options for people with cystic fibrosis who are aged 65 years and older or receive Social Security disability insurance payments.

Cystic fibrosis (CF) is a severe and potentially life threatening disease. People with CF have abnormally thick and sticky mucus that can clog their lungs and make it difficult to breathe.

More than 30,000 people in the United States live with CF, and there is currently no cure.

This article explores Medicare coverage for CF medication and other treatments. It also looks at the costs and the financial assistance that may help.

We may use a few terms in this piece that can be helpful to understand when selecting the best insurance plan:

CF is a hereditary disease that occurs when a person inherits two defective genes one from each biological parent.

It primarily affects the lungs and pancreas, making the mucus in the lungs thicker and stickier than normal. The thick mucus can reduce the effectiveness of a persons airways, leading to infection and inflammation. Over time, CF can lead to respiratory failure.

The abnormal amount of thick mucus also prevents a persons pancreas from releasing digestive enzymes. Without these enzymes, a person cannot absorb nutrients and may become malnourished. The excess mucus can also cause liver disease by blocking the bile duct in the liver.

There are different tests to diagnose CF, and a doctor will screen newborn babies for the condition. The Cystic Fibrosis Foundation (CFF) note that most people receive a diagnosis of the condition by the age of 2 years. Other tests may include a genetic or carrier test, a sweat test, and an evaluation at a healthcare clinic that the CFF have accredited.

Federally funded Medicare is a health insurance program for older people in the U.S. Some people with disabilities also benefit from Medicare.

The program has four parts, each of which offers coverage for some CF-related services:

If someone with CF needs care in an inpatient facility, hospital, or clinic, Medicare Part A covers some of these costs.

For example, if a person needs CF-related treatment, such as a blood transfusion, or a surgical procedure, such as a lung transplant, Part A covers the services. If the person needs hospice or home healthcare, Part A is also the coverage provider.

Learn more about Part A coverage here.

Medicare Part B covers doctors visits, diagnostic and laboratory tests, and other outpatient procedures. If a doctor recommends that a person with CF receive physical therapy, such as pulmonary rehabilitation, Part B covers this service.

Another item that Part B covers is a nebulizer, as long as a doctor has prescribed the device for a medically approved reason, such as CF. Medicare considers a nebulizer to be durable medical equipment (DME). Therefore, it covers 80% of the cost of the equipment and the nebulized CF medications.

Learn more about Part B coverage here.

Private insurance companies provide Medicare Advantage plans as an alternative to original Medicare. Legally, these plans must have the same coverage as original Medicare, and they often also include other benefits, such as prescription drug coverage and dental, vision, and hearing care.

A person enrolled in a Medicare Advantage plan may have to use the plan providers specific network of doctors and hospitals for CF treatment.

Learn more about Medicare Advantage here.

Private insurance companies provide stand-alone Part D plans to people with original Medicare. The plans offer coverage for prescription drugs and cover the cost of regular medication, as long as a doctor has prescribed it.

Part D plans use a formulary that lists the covered drugs. A person can use this online tool to check whether their chosen Plan D plan formulary includes their medication.

Learn more about Part D plans here.

At this time, there is no cure for CF, and treatments aim to help people manage the symptoms and live a healthier life. According to the CFF, there are several options, including medication, nutritional therapies, and fitness routines.

Some of the available options include:

CF transmembrane conductance regulator (CFTR) modulator therapies are newer medications that target the faulty gene causing CF and encourage the correct balance of salt and fluids in the lungs, which thins the mucus.

A doctor may advise a person with CF to have a lung transplant. However, the process includes an evaluation and a significant amount of planning and preparation.

The Food and Drug Administration (FDA) have approved Kalydeco and Orkambi for children with CF who are 2 years of age and older. They have also approved Symdeko for those older than 5 years and Trikafta for those aged 12 years and older.

The cost of CF treatment varies considerably according to the individuals needs. Medicare costs may include premiums, deductibles, copays, and coinsurance.

Most people do not pay a premium for Part A, as long as they have paid Medicare taxes for 40 or more quarters. However, if a person has to pay the premium, the cost in 2021 ranges from $259 to $471.

If a person needs inpatient care in a hospital or clinic, Medicare Part A covers the cost. However, a person must meet the deductible of $1,484 (in 2021) before Medicare contributes. Medicare assesses the deductible per benefit period, which starts when someone enters the hospital and lasts for 60 days.

The Part B basic premium for 2021 is $148.50. A person with an annual income level above $88,000 may have a higher premium, ranging from $207.90 to $504.90.

Part B covers 80% of a persons outpatient healthcare costs.

Advantage plan costs vary depending on several factors, including location, coverage, and a persons age. However, in addition to the plans costs, a person will pay the basic Part B premium.

Learn more about Advantage plan costs here.

Part D costs vary among plans. Monthly premiums are based on income, and Medicare uses the adjusted gross income from a persons tax returns to assess the premium. A person may also pay an adjusted monthly fee.

Learn more about Part D costs here.

Some programs, including Medigap, Medicaid, and Extra Help, may help cover a persons out-of-pocket expenses.

This supplementary insurance helps people pay for some out-of-pocket Medicare expenses, such as copays, deductibles, and coinsurance. Private insurance companies provide 10 Medigap plans with different coverage levels. The costs depend on location and vary among plans.

Learn more about Medigap here.

Medicaid is a government program to assist people with a low income and few resources. The criteria to qualify for the program vary among states.

Learn more about Medicaid here.

Federally funded Medicare Extra Help is sometimes known as Part D low income subsidy. It assists a person on a low income in meeting the costs of Medicare prescription drugs. The Social Security Administration (SSA) oversee the program.

Learn more about Extra Help here.

Cystic fibrosis is an inherited genetic condition that causes lung dysfunction and related issues.

Medicare covers most of the costs of inpatient and outpatient care for CF after a person has met the annual deductible. Medicare Part D and Advantage plans may also cover costs.

The information on this website may assist you in making personal decisions about insurance, but it is not intended to provide advice regarding the purchase or use of any insurance or insurance products. Healthline Media does not transact the business of insurance in any manner and is not licensed as an insurance company or producer in any U.S. jurisdiction. Healthline Media does not recommend or endorse any third parties that may transact the business of insurance.

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Medicare and cystic fibrosis: Coverage, options, treatments, and costs - Medical News Today

The U.S. Food and Drug Administration has approved a treatment that could give children with a rare genetic illness that causes premature aging more time to live.

Children with the disease, known as Hutchinson-Gilford progeria syndrome, or progeria for short, often die of heart failure, heart attack or stroke as teenagers. Most children with the disorder die before they reach age 15. The newly approved drug, called Zokinvy, is the first and only approved treatment for progeria and certain related syndromes, the FDA announced November 20.

In clinical trials of 62 children receiving the drug, Zokinvy increased life span by about 3 months on average during the first three years of treatment, compared with another 81 kids who did not take the drug from a separate study that collected their health data. Following children who continued to receive Zokinvy for up to 11 years showed that, on average, kids life spans were lengthened by about 2.5 years.

This is not a cure, cautions Monica Kleinman, a pediatric critical care doctor at Boston Childrens Hospital who was involved with the clinical trials. Weve hopefully extended the life span that [the children] have by slowing the pace of the disease, but, she says, the drug doesnt give kids a normal length of life.

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An estimated 350 to 400 kids across the world have progeria. For these children, a single mutation in their genetic code upends their health (SN: 2/7/13). That mutation interferes with the gene responsible for making the protein lamin A, which helps hold cells nuclei together. Children with progeria end up with higher amounts of a defective protein called progerin, which is similar to lamin A but with an extra piece attached. This protein gets stuck in cells membranes and cant be recycled for fresh proteins, causing the cells to prematurely age and making blood vessels and connective tissue stiffer, Kleinman says.

Everyone makes some progerin, and the body makes more as it gets older, Kleinman explains, but children with progeria make a huge amount. Children typically appear normal at birth, but start to show signs of the illness in their first two years of life. Over their lives, these kids experience loss of hair and body fat, joint stiffness, cardiovascular disease and other symptoms of accelerated aging.

Zokinvy, made by the company Eiger BioPharmaceuticals of Palo Alto, Calif., blocks some of that progerin production, lowering the amount that accumulates in kids cells. But the oral drug, taken as capsules, doesnt fully block production, she says, and the amount that patients can receive is limited by the drugs side effects, which include vomiting, diarrhea and fatigue.

The drug is a testament to the power of basic research, says Tom Misteli, a cell biologist at the National Cancer Institute in Bethesda, Md, who was not involved with work on the drug. Zokinvy builds on decades of research on many aspects of the lamin A protein, including the seemingly esoteric chemical modification that forms progerin, he says.

Nobody studying this protein or the modification could have expected it to become a drug target, Misteli adds. But once the disease-causing gene was identified, researchers zeroed in on the class of drugs that includes Zokinvy as potential treatments.

With the new drug approval, the focus is now to test additional drugs or therapeutics in combination with Zokinvy, Misteli says. That could help lengthen the lives of children with progeria even further. Researchers are also investigating gene therapy approaches, with the goal of fixing the mutation that causes the debilitating illness.

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The FDA has approved the first drug to treat the rapid-aging disease progeria - Science News

Detroit Lions senior VP of business development Kelly Kozole works with her daughter, Morgan, who has a rare neurological disorder called beta-propeller protein-associated neurodegeneration, or BPAN.Michael Rothstein

TROY, Mich. -- Wearing a white T-shirt with a massive star in sparkling shades of pink, yellow and seafoam green on the front, Morgan Kozole sits in front of a fold-up chalkboard in the living room of her family's Detroit-area home and starts to draw.

Using pink and yellow chalk, she sketches Mickey and Minnie Mouse. The Disney characters are dominant fixtures in the 5-year-old's life and therefore become a soundtrack for the Kozole family: Morgan constantly saying "Mickey," with her long, blond ponytail bouncing to whatever song happens to be playing on the Mickey Mouse Club.

"These are the two Mickeys," Morgan says, pointing to the chalkboard. Her mother, Detroit Lions senior vice president of business development Kelly Kozole, explains that this is her way of communicating that she would like a visitor to draw Mickey too. If it's close, Morgan accepts it. Another Mickey to fawn over.

For Morgan's birthday earlier this year, the family went to Disney World. On this trip, the Kozoles saw what they had longed for: the potential of progress.

"She knew where we were. She knew Mickey Mouse," Kelly said. "Before, she wouldn't go to the characters, and now she's jumping up and down, hugging. She really, along those lines, is also really into birthdays.

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"The 'Happy Birthday' song. Before that, she was just kind of looking. Sometimes it was too much for her with everyone singing -- sometimes loud noises are too much. This year, we had to sing 'Happy Birthday' to her three times."

Birthdays, for children, are happy occasions -- reasons for grand celebrations of progress toward adulthood. For the rest of Morgan's family it is more complicated.

Morgan has a rare neurological disease called beta-propeller protein-associated neurodegeneration, known as BPAN. It's a disorder, more prevalent in girls than boys, that causes delayed development and seizures, communication issues and, sometimes, motor dysfunction. It's unclear exactly how many people are living with BPAN worldwide due to its rarity, although Dr. Sami Barmada, a scientist at the University of Michigan studying BPAN, estimates roughly 500 to 600 people.

It's rare enough that Dr. Henry Paulson, the director of the Michigan Alzheimer's Disease Center, said there are experts in neurodegeneration who are unfamiliar with BPAN. While Kelly is trying to advocate for her daughter and others with BPAN through fundraising for research, science moves only so fast.

The Kozoles understand that. So birthdays for the family aren't always happy. They are a reminder of what could come.

"That ticking time clock," Kelly said. "Every birthday isn't exciting for me for her. Because it's one year closer to when this bomb is going to go off."

BPAN's rarity makes the reality heartbreakingly simple: There are very few effective treatments, little research and no cure. As Morgan learns how to organize her Peppa Pig characters and learns new words on her iPad -- her future looms.

At some unpredictable point in Morgan's teen and adult years -- the average is around age 25, according to Barmada -- development will just stop. Progress will decline and, in some cases, disappear. Those afflicted with BPAN begin suffering from progressive dystonia parkinsonism -- making it difficult to walk, talk or stand.

"Any day," Kelly said, "it could be like, 'Oh, your daughter's gone.'"

WHEN MORGAN WAS born on Jan. 12, 2015, she was, largely, a healthy baby. She was a little jaundiced but nothing worrisome.

When she would go to the doctor's office for shots, Morgan didn't cry. It was a little abnormal, but when you're a parent of a young child, no crying is viewed as a minor miracle. Kelly and her husband, Kevin, took this as a sign of a tough kid. Nurses even said how great it was.

Looking back, it was a warning sign that something was wrong. BPAN causes a high pain tolerance. Before long, more concerns popped up. Morgan wasn't crawling at nine months, wasn't walking at a year. Expected milestones passed without Morgan reaching them. Kevin and Kelly put her in therapy in late 2016 to work up to these childhood progressive traits and began researching potential causes. They wouldn't find an answer for more than two years.

"She was diagnosed with cerebral palsy at first. One doctor diagnosed her with that, and then another, our neurologist, said she doesn't have that," Kelly said. "Then there was speculation but not a full diagnosis she had autism, so we did all the tests for that.

"So through this kind of journey of trying to find out what was wrong, it was exciting that she didn't have something that you were going to this test for, but you still had so many more questions as you were eliminating all these potential diseases that she could have."

Befuddled, they began genetic testing and in November 2018 received a letter about a mutation on Morgan's WDR45 gene. Kelly Googled it, stumbled upon BPAN and freaked out, calling their neurologist. The neurologist told Kelly not to worry -- BPAN was very rare, and Morgan didn't have it.

Doctors diagnosed her with epilepsy because of seizures. Morgan took Keppra, which helped accelerate her vocabulary to about 50 words, typical for a 1-year-old, when she was 3. Then doctors said no, it wasn't epilepsy either.

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Another meeting with another neurologist led to a different diagnosis. Three days after she and Kevin returned to Michigan from Super Bowl LIII in February 2019, they received a call. Doctors figured out what was wrong.

It was BPAN.

"In my mind, it's worse than cancer," Kelly said. "How is this even possible? That this can even be so painful for kids later on in life. You try so hard to gain all these abilities, and then early adolescence or early adulthood, it's just [gone] one day, and I've seen a lot of these stories.

"There's a BPAN Facebook website, and that's where the doctors sent us. There's no cure. There's no therapy. 'Go to this website.' That's what I was told."

FOR MONTHS KELLY cried, angry and heartbroken. The Kozoles initially told their families and no one else.

In May 2019, Kelly went to her first Neurodegeneration with Brain Iron Accumulation (NBIA) conference. She met other parents, heard their stories and began the new normal.

She used her skills -- organization, fundraising and business -- to brainstorm ways to help. Hardly anyone had researched BPAN. Without it, there would be no chance for a cure -- not in Morgan's lifetime, which could reach her 40s, and not in the lifetime of those who might come after.

She shared what was happening with her boss, Detroit Lions president Rod Wood, and his wife, Susan, using a website link to explain BPAN. Wood knew something was wrong because of texts and emails saying they had to take Morgan to this specialist or that appointment.

"As that was confirmed and became her reality, she is now able to talk about it, in a way," Wood said. "Because she's full bore on trying to help generate awareness and financial resources to find a cure for it.

"She went from the unknown to the very tragic known to, 'OK, what are we going to do about it?'"

Kelly consulted her aunts, both of whom worked in medicine. Linda Narhi worked in biotechnology for Amgen for more than 30 years; Dr. Diane Narhi was the first female chief of staff at Simi Valley (California) Hospital. From talking with another group of fundraising BPAN parents -- BPAN Warriors -- Kelly found a guide.

If her aunts had not been resources, she might have joined BPAN Warriors. But Kelly admittedly needs to be in control, and this was her daughter. She needed to manage this herself. She created a nonprofit called Don't Forget Morgan.

Kelly's aunts provided guidance, and Wood offered contacts he had in the finance industry and Silicon Valley. Wood and Lions general counsel Jay Colvin sit on the board. Other Lions coworkers -- with Wood's blessing -- built the website, designed the logo and created social media plans and the first pitch video for Don't Forget Morgan's rollout in 2020.

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Progress started with a $15,000 grant to help with a mouse model study at Sanford Research in South Dakota, with another, larger, potential grant to come. In recent months, Kelly has focused largely on fundraising, and another parent of a child with BPAN, Christina Mascarenhas Ftikas, has focused on the medical side of the nonprofit.

"This is why I'm here," Kelly said. "I'm supposed to be a vehicle to get all of this awareness and hopefully a cure for BPAN so the child one, two, three, five years from now, there is hope.

"There is no, 'Go to Facebook.' There is something where you can actually give a parent, 'Here's the symptoms to look for.'"

ABOUT AN HOUR away in Ann Arbor, Michigan, Kaci Kegler and her husband, Brian, had been in the same Facebook community. Kelly, new to the group and looking for a nearby connection, wrote Kaci a message.

"Hey, my daughter was just diagnosed, could we connect?"

Kaci understood. She did the same thing, reaching out without success in 2016 after her daughter, Elle, was diagnosed. Kaci wanted to be a resource.

They talked for an hour. There wasn't much Kaci could say to soothe her. Kelly pinged a year later with another message: I'm starting a nonprofit. Kaci offered to help.Despite suffering from BPAN, Morgan is like any other 5-year-old who enjoys playing with her brother, Connor.Michael Rothstein

Days later, on Feb. 28, Kaci and her husband, Brian, an assistant athletic director for development at the University of Michigan, had their yearly fundraiser for BPAN research on Rare Disease Day at Pizza House in Ann Arbor. They met a doctor who had a connection to researchers at Michigan.

"I literally came home and texted [Kelly] and was like, 'Oh my gosh, we may have inroads,'" Kaci said. "We just started texting. I have never met Kelly face-to-face. We still haven't. But we've texted a lot and we've emailed quite a bit.

"It just kind of started."

By summer, they went from nothing to putting pieces in place for a full-fledged research project with a two-year, $140,000 grant for Barmada and Dr. Jason Chua to help start to solve BPAN.

Chua was working on the regulation of autophagy, which is the cleaning out of damaged cells, and studying BPAN became a natural extension of the work he had already been putting in. BPAN alters that in neurons. Barmada said Chua's research provided a "rare win-win situation" to potentially help with BPAN and other diseases too.

"There are a set of questions in BPAN that nobody has the answer to," Barmada said. "And Jason and myself, we just seem to be in the right position, the right place to be able to help out."

The goal is to understand what is happening within BPAN itself and how people end up with it, while also trying to find therapies for existing patients. Within a year, they are hoping to grow stem cells from people with BPAN in their lab, allowing for the creation of their own stem cells missing the WDR45 gene. Then they will try to either replace the gene or "stimulate autophagy through genetic or pharmacologic means," Barmada said. The hope is this can prevent neurodegeneration.

So far, they've hired a research assistant to work with Chua, developed tools to manipulate the gene using the genome-editing tool CRISPR and applied for approval from Michigan and the institutional review board to get skin biopsies to obtain stem cells from BPAN patients.

It's a process, but it's also a start.

Lions VP tries to save daughter from rare disease Fantasy fallout: Keep rolling with rookies? Tua's benching a lesson for young QBs Big Ben making push for first MVP award Should Chiefs worry about pass-rush woes?

After partnering with Michigan and Sanford, Don't Forget Morgan also began working with Dr. Kathrin Meyer, a researcher at the Center for Gene Therapy at Nationwide Children's Hospital at Ohio State.

"Solving this disease is going to require more than Jason and Sami," Paulson said. "It's going to be a first shot across the bow, but it's going to require more than that. I'll say this, being in the field for a long time. Scientists who are coming up the pike say they want to look at Alzheimer's, want to look at epilepsy. They don't say, 'I want to look at a rare disease.'

"The only way to solve a rare disease is to get someone hooked. Sometimes when you hook a really good one, as I think we have with Jason here, you hook them for life and they make a difference."

MORGAN IS BOUNCING around the Kozoles' suburban Detroit home on this late August day. They just returned from northern Michigan, and having two kids, especially one with special needs, makes tidiness unrealistic.

COVID-19 changed things. Morgan hadn't been to many of her therapies for months. Online school barely kept her attention. There was concern she would have regression in her learning. Instead, her speech advanced by being around Kelly, Kevin and her older brother, Connor, all day. She has sung more songs recently to help increase her vocabulary. Sometimes, she'll listen 20 times in a row.

"Even more than that," Connor said. They aren't sure how much she's truly learning versus memorization. But it is something.Morgan Kozole has inspired her mother, Detroit Lions VP Kelly Kozole, to marshal researchers and other advocates to develop a cure for BPAN, and perhaps help future generations of children who live with the disorder.Michael Rothstein

The family gathers inside Morgan's bedroom -- complete with a special Haven Bed with a zipper to keep her safe from wandering around at night, when she could accidentally turn on the stove and hurt herself or others -- sleep disorders are another BPAN issue. She sits on the floor and starts playing with her small, yellow dollhouse and a fake ice-cream maker. Kelly asks for an ice cream. Morgan makes one for herself instead and pretends to eat it.

Later, outside, Morgan kicks a soccer ball and plays a modified game of catch with a squishy football. Football, no surprise, is big. She says "hike" a lot. "She knows that term," Kevin says, laughing.

In these moments, Morgan seems like any other young child. She attends St. Hugo of the Hills Parish School in Bloomfield Hills, Michigan, but has a one-on-one para nanny to help. She interacts with people, often overly affectionate.

Sitting at the kitchen table after playtime outside, she plays with Starfall, a children's learning app, on her iPad. They hope it accelerates her word recognition. Morgan is entranced watching "Farmer in the Dell" and using her hands to eat orange slices and Cheerios. She needs a mirror in front of her to provide her a target for her mouth. She listens to books, another way to try absorbing information.

Morgan can now count to 20 and say three sentences in a row. Kelly and Kevin have tried to give Morgan a normal life in an abnormal situation, but they worry about the future -- what she won't have and won't be able to experience.

But Morgan has changed some of that outlook too.

"Focus on how she is so loving and has so much pure joy. A lot of parents of special needs [kids] say you can learn so much from these kids, and you really can," Kelly said. "She is, every morning, just so happy, and 'Mama!' Hugs and kisses to strangers. She has none of those behaviors you learn as an adult where you're not kind to people or you don't want to talk to someone.

"She is just open arms, will give you a hug and is so loving, and it's like, 'Wow, this is really what life is about.'"

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'This is why I'm here': A Detroit Lions VP tries to save her daughter from rare disease - ESPN

Clinical data from three ongoing trials of Ad-RTS-hIL-12 plus veledimex (referred to as Controlled IL-12) for the treatment of recurrent or progressive glioblastoma multiforme (rGBM) and diffuse intrinsic pontine glioma (DIPG) were presented at the annual (virtual) meeting of the 2020 Society of NeuroOncology (SNO).

The data for the new treatment option, being developed by Ziopharm Oncology, included the first discussion of interim results of a phase II study of Controlled IL-12 in combination with cemiplimab (Libtayo; Regeneron Pharmaceuticals and Sanofi-aventis) for the treatment of rGBM that has recently completed enrollment, and updated interim data from the phase I study of Controlled IL-12 in combination with nivolumab for the treatment of rGBM and data from the first patient enrolled in the ongoing phase I/II study of Controlled IL-12 monotherapy for the treatment of DIPG.

Weve reported data for the first time from the ongoing phase II study of Controlled IL-12 in combination with PD-1 inhibitor cemiplimab, showing activation of the immune system across patients. These data are highly encouraging and underscore the potential of Controlled IL-12 to transform the treatment landscape of recurrent glioblastoma.

Interleukin-12Interleukin 12 or IL-12, a cytokine that is produced by dendritic cells, monocytes, and macrophages, and to a lesser extent by B-cells, induces TH1 differentiation in T-lymphocytes and the subsequent expression of interferon (INF). The cytokine belongs to the family of interleukin-12 which comprises the only heterodimeric cytokines, including IL-12, IL-23, IL-27, and IL-35.

IL-12 also promotes the expansion and survival of activated T-cells and NK cells and modulates the cytotoxic activity of CTLs and NK cells. During the adaptive immune response, IL-12 is known to primes antigen-specific T-cells for high IFN-g production, which drives the differentiation toward the Th-1 pathway. IL-12 can also act as an adjuvant for humoral immunity by enhancing the production of IgG2a and IgG2b antibodies, and it may enhance antibody production by B-cells.

Ziopharms Ad-RTS-hIL-12 plus veledimex is a gene therapy with an Adenoviral vector (Ad) providing the vehicle engineered to express IL-12 under the control of the RheoSwitch Therapeutic System (RTS). Ad-RTS-hIL-12 + veledimex has demonstrated a dose-related increase in tumor IL-12 mRNA and IL-12 protein expression. Discontinuation of veledimex resulted in a return to baseline IL-12 mRNA and protein expression in numerous syngeneic mouse tumor models. Image courtesy Ziopharm Oncology.[1]Although interleukin-12 (hIL-12) has anticancer activity, the systemic application is limited as a result of a toxic inflammatory responses. To solve the problem, scientists at Ziopharm assessed the safety and biological effects of an hIL-12 gene, transcriptionally regulated by an oral activator. [1]

Ziopharms Controlled IL-12 platform turns on the expression of IL-12 on demand, signaling for T-cells to attack and destroy cancerous tissue. As part of the treatment, genes coded to produce IL-12 are delivered to tumor sites. Following this step, patients are given a dose of veledimex to trigger the implanted genes to produce IL-12. This approach allows treating physicians to increase or decrease expression levels of IL-12 or turn it off altogether.[1]

PD-1 inhibitorThe updated data on combining Controlled IL-12 with nivolumab reveal a subset of patients with rGBM that demonstrate very encouraging survival at 16 months. This observation reveals that immune modulation with IL-12 and anti-PD-1 is well tolerated with an apparent survival benefit that will need further confirmation in upcoming more advanced clinical trials, said E. Antonio Chiocca, M.D., Ph.D., study investigator, Chairman of Neurosurgery at Brigham and Womens Hospital, Professor of Neurosurgery at Harvard Medical School, and Surgical Director of the Center for Neuro-oncology at Dana-Farber Cancer Institute.

These survival data in conjunction with previously reported MRIs showing partial responses is consistent with immune-mediated anti-tumor effects, Chiocca added.

CemiplimabThe results from the ongoing Phase II study of Controlled IL-12 in combination with PD-1 inhibitor cemiplimab for the treatment of adult patients with recurrent or progressive glioblastoma multiforme (rGBM), showed an activation of the immune system across patients with rGBM.

The combination trial demonstrated promising initial survival data, with median overall survival not yet reached. The data was comparable to results from a Controlled IL-12 monotherapy study previously presented at the 2020 annual meeting of the American Society of Clinical Oncology (ASCO).

Even with the best available therapies, the median overall survival for patients with rGBM is capped at 12 months. The Controlled IL-12 monotherapy has shown it can bring median overall survival to 16+ months.

Across its Controlled IL-12 studies to date, Ziopharm has identified a total of six partial responses, highlighting the promising potential of this therapy for the treatment of rGBM.

Remote-controlled therapyThe drug itself works like a remote-controlled therapy. The vector is injected directly into the tumor, but the gene of interest, IL-12, is under a transcriptional regulator, meaning that IL-12 is only expressed when the patient takes a drug that activates its transcription. Physicians can remotely control IL-12 expression by telling the patient when to take this pill.

Platform technologyAs we reflect on the growing body of evidence across our efforts utilizing our Controlled IL-12 platform, we are encouraged by the signs of efficacy we are seeing in these very hard-to-treat cancers. Not only are we observing cytokine production, increases in intra-tumoral T-cells, and predictable safety after treatment with Controlled IL-12 as a monotherapy and in combination with PD-1 inhibitors, but we have reported at least one partial response in each rGBM trial we have conducted to date, for a total of six, noted Laurence Cooper, M.D., Ph.D., Chief Executive Officer of Ziopharm

These MRI data, along with IL-12-driven immune response complement our encouraging survival data and we look forward to future data read-outs in 2021. Further, the initial look at data from the first patient in our phase 1/2 pediatric glioma study supports Controlled IL-12s safety profile and continued development, Cooper added.

Key studies: Controlled IL-12 + cemiplimabControlled IL-12 in combination with PD-1 inhibitor cemiplimab is currently being examined in a phase 2 study for the treatment rGBM (NCT04006119). Preliminary data in the on-demand presentation include:

Key studies: Controlled IL-12 + nivolumabControlled IL-12 in combination with the PD-1 inhibitor nivolumab is currently being examined in a phase I study for the treatment of rGBM. Interim data highlights shared in an oral on-demand presentation include:

As a follow up to our prior readout (ASCO 2020) for this combination which reported partial responses by MRI, the two patients had meaningful improvements in survival with one patient on 20 mg veledimex surviving 17.4 months and the other (10 mg veledimex) surviving 21.0 months (in follow up).

Diffuse Intrinsic Pontine GliomaControlled IL-12 monotherapy is being studied in a phase 1/2 dose-escalation study for the treatment of children with gliomas, including DIPG. Data highlights from the first patient in the study shared in a poster discussion, included:

It is important to note that these trials, including our previously disclosed monotherapy study, now consist of over 125 patients with rGBM. These provide deep learning that is ongoing and is part of the efforts to develop Controlled IL-12 as a potential therapy for brain cancers. We will continue to monitor the data across both the monotherapy and checkpoint inhibitor combination studies in the coming months. We believe there are multiple potential paths to registration for our Controlled IL-12 program, either as a monotherapy therapy or in combination with other agents, Cooper concluded.

Clinical trialsEvaluation of Ad-RTS-hIL-12 + Veledimex in Subjects With Recurrent or Progressive Glioblastoma, a Substudy to ATI001-102 NCT03679754A Study of Ad-RTS-hIL-12 With Veledimex in Subjects With Glioblastoma or Malignant Glioma NCT02026271Study of Ad-RTS-hIL-12 + Veledimex in Combination With Cemiplimab in Subjects With Recurrent or Progressive Glioblastoma NCT04006119A Study of Ad-RTS-hIL-12 With Veledimex in Combination With Nivolumab in Subjects With Glioblastoma; a Substudy to ATI001-102 NCT03636477A Study of Ad-RTS-hIL-12 + Veledimex in Pediatric Subjects With Brain Tumors Including DIPG NCT03330197

Highlights of Prescribing informationCemiplimab (Libtayo; Regeneron Pharmaceuticals and Sanofi-aventis) [Prescribing Information]Nivolumab (Opdivo; Bristol-Myers Squibb) [Prescribing Information]

Meeting presentationsLukas RV, Chiocca EA, OberheimBush NA, Landolfi J, Cavaliere R, Yu J, Kurz SC, Demars N, et al. Phase 2 Trial of Controlled IL-12 in Combination with PD-1 Inhibitor in Adult Subjects with Recurrent Glioblastoma (Abstract #901183) SNO 2020 Annual Meeting; Presented by: Rimas V. Lukas, MD [Presentation]Chiocca EA, Lukas RV, Chen CC, Rao G, Reardon D, Wen P, Bi WL, Peruzzi P, et al. Combination of Controlled Interleukin-12 Gene Therapy with Immune Checkpoint Blockade in Recurrent Glioblastoma: Updated Results of a Multi-Institutional, Open-Label Phase 1 Trial(Abstract #901050) SNO 2020 Annual Meeting; Presented by: Antonio Chiocca, MD.[Presentation]Goldman S, Mueller S, Chi S, Saratsis A, Allen R, Buck J, Demars N, Hadar N, Estupinan T, et al. Phase I/II Study of Controlled IL-12 as Immunotherapy for Diffuse Intrinsic Pontine Glioma (DIPG) (Abstract #901123), presented by Stewart Goldman, M.D., Division Head Hematology-Oncology, Neuro-Oncology & Stem Cell Transplantation at Lurie Childrens Hospital. [Poster]

Reference

[1] Barrett JA, Cai H, Miao J, Khare PD, Gonzalez P, Dalsing-Hernandez J, Sharma G, Chan T, Cooper LJN, Lebel F. Regulated intratumoral expression of IL-12 using a RheoSwitch Therapeutic System (RTS) gene switch as gene therapy for the treatment of glioma. Cancer Gene Ther. 2018 Jun;25(5-6):106-116. doi: 10.1038/s41417-018-0019-0. Epub 2018 May 14. PMID: 29755109; PMCID: PMC6021367.

Featured Image: Doctor report and recommend a method with patient treatment, results on brain x-ray film. Photo courtesy: 2020 Fotolia/Adobe. Used with permission.

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Encouraging Clinical Data for Controlled IL-12 for the Treatment of Glioblastoma and DIPG - OncoZine