Last week, PTC Therapeutics announced the initiation of their phase 2 clinical trial, PIVOT-HD, evaluating the effects of PTC518 in people with HD. The global trial will open first in the United States to test the safety and efficacy of the drug, which is an oral huntingtin-lowering therapy.  It works by inserting a disrupting message into the code for huntingtin protein to prematurely stop its production. A phase 1 study of PTC518 in healthy adults offered a promising indication that the drug effectively lowered huntingtin protein levels in participants. The study will recruit individuals in the earliest phases of HD with the help of PIN scores, a new diagnostic system to evaluate symptoms of HD. To read the full press release, click here. To learn more about PIN scores, keep reading 

PIN Scores: What do they tell us about HD?  

As scientists forge onward in the search for treatment and cures for HD, the question remains: what is the best time to deliver a therapeutic for HD? Ideally, a disease intervention would be administrated before the onset of symptoms to prevent them from happening altogether. However, when testing the success of a drug for HD, it’s easiest to measure the effects of a treatment in people who already have symptoms. One way to help track a person’s early HD journey is through a new tool called a PIN score (prognostic index score). A PIN score estimates how quickly someone’s HD symptoms will progress based on the earliest observable symptoms of HD and a genetic estimate of when a person will reach the clinical threshold of disease. A group of researchers set out to determine how PIN scores could be used to allow individuals with premanifest HD to participate in clinical trials before they are clinically diagnosed with the disease.  In a recent publication, a group of HD researchers proposed that PIN scores could be used to allow individuals with premanifest HD to participate in clinical trials before they are clinically diagnosed with the disease. This would increase the number of people eligible to participate in trials, and could lead to earlier interventions for HD.  

Wave Life Sciences announces early indicators of success for next-generation chemistry  

Earlier this week, Wave Life Sciences gave a positive update on their phase 1b/2a study, FOCUS-C9. The trial is testing the effects of a genetic drug called WVE-004 in people with ALS and fronto-temporal dementia. New data shows that the drug was able to lower a harmful disease protein in the spinal fluid of study participants with ALS. Why is this relevant to HD, you ask? The specific chemistry incorporated into the design of WVE-004 was also incorporated into WVE-003, the huntingtin-lowering drug that Wave is studying in the SELECT-HD trial. The drugs have a similar “backbone” – you can think of this like a sort of master key that can be adapted to suit different locks. We are hopeful that this new chemistry will be similarly effective for lowering huntingtinTo read the full announcement, click here. More updates on the effects of this chemistry and the success of SELECT-HD and FOCUS-C9 can be expected later this year.  

“HDSA & the HD Research Pipeline” Now available on YouTube! 

If you missed yesterday’s research webinar or want to review, learn more about HDSA’s research programs and exciting updates in the HD research landscape and watch the recording here. For more HD research updates from leading scientists and clinicians across the globe, join HDSA for its 37th Annual Convention in Atlanta, GA from June 9-11. Register to attend in-person or online here