On April 24th, 2018, Ionis Pharmaceuticals made an announcement about the Phase 1/2 clinical trial of their huntingtin-lowering drug, IONIS-HTTRx (RG6042). As we mentioned last week, the news was shared publicly in a press release and the data was highlighted at the American Academy of Neurology (AAN) Annual Meeting. To clarify the meaning of the press, HDSA released an FAQ addressing questions from the community. HD Buzz kindly shared it with their worldwide readership in their recent post.
Gene Veritas, HD advocate and writer, also talked about the news in a blog post on Thursday.
This Week in HD Research History
In early May of 1997, a few years after the CAG repeat mutation that causes Huntington’s disease had been discovered, scientists and doctors made another important observation about the HD gene. The team examined the brains of 89 people who had died of HD, and found that the more CAG repeats a person carried, the earlier the onset of symptoms and brain pathology. This general relationship between mutation length and age of onset has been confirmed many times in the past 20 years. However, there’s a huge amount of variability – sometimes two people with the exact same CAG repeat length show symptoms at different ages. The question of why has been a great mystery within the HD field, and researchers (including HDSA Fellows) now have the tools to explore genetic and environmental clues. The ultimate goal is to harness this knowledge to develop therapies that delay onset.
The original study about CAG repeat length relied on many individual brain donations, and many current HD research studies on the human brain depend on extraordinary individuals and families who make the decision to donate. If you’re interested in learning more, we suggest checking out the Brain Donor Project at https://braindonorproject.org/.