Rare Diseases: 5 Recent Reasons to Cheer

Posted: July 30, 2012 at 10:13 am

On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18 genes. It was the final session of the Foundation for Retinal Researchs bi-annual LCA family conference, and I was there to discuss the history of gene therapy. But I zapped through that quickly, because the future is much more intriguing.

Exome sequencing identified the rare mutation that causes Gavin Stevens hereditary blindness (Leber congenital amaurosis, or LCA). (Jennifer Stevens)

The excitement pervading the room that day was palpable, following a day of scientific updates, and not only because those with young children were soon to visit Sesame World and the sights of Philadelphia.

Jennifer and Troy Stevens exemplified that hope. Two years earlier, at this conference, theyd learned that researchers had been unable to identify a mutation behind their toddler Gavins blindness. Now they know the name of their gene: NMNAT1. Ill return to their story.

The star of the 2010 conference had been 10-year-old Corey Haas and an energetic young sheepdog, both cured of LCA with gene therapy. This weekend, the stars were the new programs and technologies that would allow other families to join Coreys and not just those with blindness.

The rare disease community in the US collectively belies its name: at least 30 million people suffer from 7,000+ diseases, many so rare that they hover beneath the radar of big pharma. But maybe not for long, thanks to the following recent reasons to cheer:


On July 20, the European Medicines Agency (EMA) announced impending first approval of a gene therapy in the western world.

Its for lipoprotein lipase deficiency (LPLD). The enzyme normally breaks down tiny triglyceride-packed globules called chylomicrons, and its absence causes episodes of very painful pancreatitis that can be fatal. LPLD is an ultra-rare disease, striking 1-2 people per million. And the only treatment is a diet so low in fat that most patients cant stick to it.

The gene therapy, Glybera, consists of adeno-associated virus type 1 delivering an overactive variant of the LPL gene, injected into a leg muscle during a single day. But not many people have had it.

See the article here:
Rare Diseases: 5 Recent Reasons to Cheer

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