Huntingtin lowering (HTT-lowering) has been touted as a promising avenue for treatment of HD because it targets the cause of the disease, mutant huntingtin protein. However, the success of these approaches is complicated by their ability to be distributed throughout the brain and body with a delivery method that is as minimally invasive as possible. PTC Therapeutics recently published an article in Nature Communications covering their approach to HTT-lowering—splicing modulators. These compounds lower HTT by interfering with the message that triggers production of HTT protein. The publication details the complicated process of narrowing a library of over 300,000 molecules to two compounds that offered promising implications for success treating HD in humans, and then testing whether those drugs achieved the desired effect when given to mice by mouth. HDBuzz covered the specifics in their most recent publication—you can read the full story here.
HD family member joins Novartis leaders to discuss VIBRANT-HD
Join HD family member, Tina Leggett, for conversations with Novartis leaders Dimitri Papanicolaou, Jang Ho-Cha, and Beth Borowsky about VIBRANT-HD, a Phase 2 study of branaplam for HD. Branaplam was studied for many years in kids with Spinal Muscular Atrophy, and was found to affect huntingtin protein. Now, this drug, taken by mouth in the form of a syrup, will be tested for meaningful benefit in individuals with HD. The 16-week, phase 2 dose-finding and safety study will recruit 75 participants for weekly doses of branaplam at sites in 11 countries across Europe and North America. If successful, a larger phase 3 study will be initiated to determine the effectiveness of branaplam in treating HD. To learn more, watch the full video here.
NPR Science Friday: What does it mean to donate your brain to science?
Tune in to this week’s NPR Science Friday from broadcast from 2-4 PM to learn more about what it means to donate your brain to science. Ira Flatow will host representation from The Brain Donor Project and Bill Scott, the Director of the NeuroBioBank site at The University of Miami, for a discussion on brain banking to advance the science of brain diseases. If you miss the episode on air, you can catch the recording on the Science Friday website here.