This week marked the first FDA approval of a gene silencing drug, for a rare hereditary disease called ATTR amyloidosis. A successful trial determined that the drug, ONPATTRO (patisiran), helped with people’s symptoms, like polyneuropathy (pain from nerve damage), dizziness, and stomach issues, and improved quality of life, activities of daily living, and nutritional status. The results were published this month in the New England Journal of Medicine and the FDA announced its commitment to advancing the development of ground-breaking, life-changing treatments.
With the HD community on the brink of pivotal gene silencing trials, we’re excited that ONPATTRO has opened the door for wider acceptance of a new class of medicines. Some community members have voiced worries about the high price of this drug, but rest assured that when the FDA approves an effective treatment addressing the root cause of a devastating disease, there will be programs to cover the vast majority of the cost and to help families pay for it. HDSA continues to monitor this issue closely and to work with drug manufacturers and foundations to improve access to current and future drugs for HD.
This Week in History: Narrowing Down the Location of the HD Gene
Back in mid-August of 1987, scientists figured out that the HD gene was located on the very tip of the short arm of chromosome 4. This was a big deal at the time – far from the ease of today’s at-home DNA sequencing kits. The existing ‘80s technology for identifying similarities between peoples’ genomes required painstaking experiments using samples from thousands of people in Venezuelan HD families. Progress was incremental and it took more than ten years to narrow the spotlight onto smaller and smaller areas of the chromosome, until the HD gene itself – a CAG repeat expansion – was found in 1993. Today research has advanced to the point of being able to edit genes and identify single-letter differences between individuals anywhere in the genome.