HDSA Research Webinar: Update from PTC Therapeutics on the PIVOT-HD Trial 

Last week, PTC Therapeutics shared that its Phase 2 PIVOT-HD trial of the oral huntingtin-lowering therapy, PTC518, has paused enrolling study participants in the U.S. This is not due to safety reasons; the study is ongoing in Europe and Australia, but PTC is continuing to work with the FDA towards a green light on their updated protocol. Next week, HDSA is hosting a research webinar in which Dr. Matt Klein, Chief Operating Officer of PTC Therapeutics, will provide an update on the ongoing global PIVOT-HD trial of PTC518. To register for the webinar, click here.  

HSG on the State of Care for HD 

The Huntington’s Study Group (HSG) formed the HD-Net Community in 2019 with support from industry and nonprofits, with the stated goal of elevating HD care and bridging the gaps that exist in access to that care. This week, HSG issued a press release stating that HD-Net had published the results of a survey administered to care providers treating people with HD across the USA. The study focused on clinicians, both HD specialists and non-specialists, and evaluated delivery of care across the country. Many of the clinicians interviewed for the study were HD or movement disorder specialists at HDSA Centers of Excellence or other HD specialty clinics. The survey found that there is notable inequality in care depending on the type of practice at which a person with HD seeks care (specialist/non-specialist). Additionally, practices seeing more people with HD in clinic, and those led by a neurologist familiar with HD, tended to be better equipped to provide multidisciplinary care. You can check out the academic article here, and learn more about HD-Net here.  

This Week in HD History: animal models 

In early November of 1996, the first genetic mouse model of Huntington’s disease was published by Dr. Gill Bates’s laboratory in England. Her team created a genetically modified mouse that had only a small piece of the human huntingtin gene, containing the disease-causing CAG repeat mutation. To their surprise, the mice got sick with HD-like symptoms. This model is still used today, and importantly, it paved the way for the many animal models that followed. A diverse array of species – from yeast to primates – are now helping us to understand the huntingtin mutation, the reasons why it causes disease, and how we can best combat HD.