This week HDSA hosted a research webinar in which Dr. Michael Hayden, CEO of Prilenia, and clinical leads Drs. Andy Feigin and Sandra Kostyk provided an overview and insights into the progress of PROOF-HD. This clinical trial is testing whether a drug called pridopidine can slow the decline in day-to-day function that people with HD experience as their disease progresses. Dr. Hayden explained the science behind pridopidine, and Drs. Kostyk and Feigin talked about the goals of the study, its clinical measurements, and gave an update on the trial’s progress. It is fully recruited and we are expecting to hear about the results in the second quarter of 2023. Check out and share the full recorded webinar here. 

Updates from the 2022 Hereditary Disease Foundation Conference 

The Hereditary Disease Foundation held its semi-annual research conference in Boston at the end of August, and HDBuzz was there to share the highlights in real time. In the final days of the event, academic-focused talks highlighted pre-clinical work that is moving towards potential trials in people, such as novel ways of lowering huntingtin and stem cell replacement therapies. Also featured were studies of other genes that modify the onset or course of HD, exploration of novel biomarkers, and combatting expansion of CAGs in brain cells. Check out the HDBuzz recap of Day 3 and Day 4 to learn more. You can also hear researchers discussing the conference in more depth at the next HDF research webinar on Thursday, September 15th at 12 PM Eastern.  

This Week in HD History: First Animal Models of HD  

Animal models of HD allow us to gain a better understanding of the disease and explore potential new avenues to prevent or treat it. Even before the 1993 discovery of the gene, researchers were determined to come up with ways to study HD in the living brain. Before it was possible to create and study mice that had the HD mutation, scientists understood that people with HD had a very particular kind of damage to the brain. The area known as the striatum is responsible for movement, motivation, and mood, and in HD, these cells begin to get sick and disappear.  

In 1976, researchers were able to recreate this type of brain tissue damage in mice and observe “symptoms” that appeared similar to Huntington’s disease. This type of modeling was used widely for almost two decades until the first genetic mouse models were created in the mid 1990s. There are now many different animal models used to study HD, from worms, flies, and slime mold, to rodents, sheep, pigs, and primates. We owe a great debt of gratitude to these animals, and in combination with new methods and technologies, we are learning more about the vulnerability of the striatum in HD.