PTC Therapeutics is a company focused on developing genetic and small molecule therapies for rare and serious disorders. This week they issued a press release announcing that their oral huntingtin-lowering drug, PTC518, has entered a Phase 1 clinical trial. This is a small, brief trial in healthy participants who do not carry the HD genetic mutation, to determine a dose of PTC518 that can safely lower levels of huntingtin protein. Results are expected in the first half of 2021, and if the trial is successful, PTC Therapeutics will then move forward with testing the drug in a larger group of HD patients.
This news of an oral therapy designed to lower huntingtin protein comes on the heels of the announcement that Novartis is also testing a drug, branaplam, that can lower huntingtin when taken by mouth. Both companies are moving forward quickly but cautiously. Details about future trial enrolment for HD patients are not yet available, but there is immense excitement in the research community around the idea of a pill that could address the genetic cause of HD and potentially modify its course.
What’s on the HD Horizon: Online Course for Medical Professionals
HDSA has partnered with PRIME, Inc., a provider of continuing medical education, to create an on-demand webcast about HD and HD research called What’s on the horizon for huntington’s disease: expert insights on emerging evidence and therapeutic approaches. This program is accessible to anyone, but is designed to educate medical professionals like pharmacists, nurses, and physicians, about the latest in HD research and care. Families are encouraged to share the link with their PCP or neurologist. It features Vicki Wheelock, MD from the HDSA Center of Excellence at UC Davis and Veronica Santini, MD from the HDSA Center of Excellence at Stanford University. In it they discuss the ongoing clinical trials generating new evidence on late-stage therapeutic approaches that hold the potential to transform outcomes for patients with HD. The on-demand webcast is free for all, and providers can earn continuing medical education credits.
Wisconsin article drives awareness and hope
This recent article from Wisconsin’s Herald Times reporter covers the experience of multiple HD families and clinicians, including HDSA volunteers and staff at HDSA Centers of Excellence. It describes the difficult journey with HD, hope in current huntingtin-lowering trials, and the importance of observational research for future HD prevention studies.