This week the pharmaceutical company Novartis announced that they had received special status from the FDA, known as Orphan Drug Designation, to study an experimental drug called branaplam in HD patients. Novartis developed branaplam for the treatment of a genetic disease in children called spinal muscular atrophy (SMA). While testing it in animals and humans, they discovered that it can lower levels of the huntingtin protein, which is the culprit in HD. The exciting part: this drug is already known to be safe in patients with SMA, and is taken by mouth. The next step will be testing branaplam in larger numbers of people, to make sure it is safe for HD patients and see whether it could help with HD symptoms. Novartis plans to start a trial of branaplam in HD patients in 2021, and receiving Orphan Drug status will help them do so. 

Orphan Drug Designation is a set of financial incentives that makes it easier, more attractive, and more efficient for companies to develop treatments for rare diseases. What this means practically for such companies is that they can get certain tax breaks, longer exclusive marketing rights, research subsidies, and other financial “perks” when they choose to study rare diseases and test medicines in rare disease patients. What Orphan Drug incentives mean for HD families is that more companies are working on treatments for HD, and the process of testing and approving these drugs can move faster and more smoothly. Although this announcement does not mean that a trial is recruiting or a medication is available, it is exciting to hear that the FDA is supportive of Novartis testing a potential new therapy for HD, especially in the realm of oral huntingtin-lowering. Check out the coverage of this news from our friends at HDBuzz

TODAY: Webinar on Telemedicine and Huntington’s Disease 

Today, October 22nd, at 2PM Eastern, Dr. Erin Furr-Stimming will present a webinar on the present and future of telemedicine and virtual care for people with Huntington’s disease. You can register here to attend

The COVID-19 pandemic made all of our HDSA Centers of Excellence reconsider the delivery of healthcare to protect the safety of their patients and healthcare professionals. In this webinar, Dr. Furr Stimming and her team at the HDSA Center of Excellence at the University of Texas Health Science Center at Houston will share their telemedicine experience during the pandemic and will introduce practical information to increase understanding about telemedicine, its different uses, challenges and opportunities for improvement in the near future. 

Since before the pandemic changed how we receive care, HDSA has supported research on telemedicine for HD patients, with the goal of decreasing the burden on families who live far from HD medical experts or for whom in-person appointments are difficult. HDSA Human Biology Fellow Dr. Danielle Larson is actively investigating the benefits of telemedicine through a well-designed study funded by HDSA since 2019.   

Dr. Ed Wild Speaks About Huntingtin-Lowering 

In this clip from the video journal of neurology, Dr. Ed Wild of UCL’s Huntington’s disease clinic (and co-creator of HDBuzz) talks about the science behind huntingtin-lowering and the Roche drug tominersen that is currently being tested in a large worldwide trial.