HDSA Awards Six Huntington’s Disease Human Biology Project Research Fellowships for 2022 

After thoughtful deliberation by its Scientific Advisory Board, HDSA will award six Human Biology Project research grants for 2022 totaling $886,785. These supported fellows hail from all over the globe, and they represent HDSA’s patient-centric research focus, bringing basic and clinical researchers together to facilitate HD science in humans and human tissues. For the full announcement, check out HDSA’s press release, and for descriptions of the 2022 recipients’ projects as well as past awards, head to our Human Biology Project webpage and scroll down.   

Updates on PTC’s PIVOT-HD study 

In October, PTC Therapeutics announced an enrollment pause in the US arm of its PIVOT-HD trial, a Phase 2 study of PTC-518. This oral huntingtin-lowering therapy affects how the body processes genetic information and causes cells to produce less huntingtin protein from the huntingtin gene. Yesterday, HDSA hosted a research webinar with Dr. Matt Klein, Chief Operating Officer of PTC Therapeutics, which included an update on the ongoing global PIVOT-HD trial of PTC518 and a community Q&A. He explained some of the science behind the drug and also elaborated on the reasons for the pause: the FDA has asked for more data in animals in order to lengthen the trial in humans. To watch the recording, click here. HDBuzz also gave us a recap of what we know about PIVOT-HD so far, and put the updated information in context. You can read the full update from the experts here.  

uniQure announces that enrollment in study of AMT-130 will continue  

uniQure shared the good news yesterday that they would resume testing AMT-130, an experimental gene therapy for Huntington’s disease delivered via brain surgery. This summer, uniQure announced it would pause enrollment in the higher dosing arm of its Phase I/II clinical study.. This decision was made due to reports of serious neurological side effects in three participants, which have since resolved. Since then, the study’s data safety monitoring board (DSMB), an independent panel of experts who carefully track the safety and effectiveness of the drug over the duration of the trial, has extensively reviewed all the data. They recommended that patient enrollment resume in the high dose cohort of the trial, with some additional monitoring one week after the surgery. To read uniQure’s community letter on this news, click here. To see the investor-focused press release, click here. 

Help4HD: Ask the Scientist with Drs. Leora Fox and Rachel Harding  

Last week, Help4HD podcast host Lauren Holder was joined by HDBuzz editors, Dr. Rachel Harding and HDSA’s Dr Leora Fox. Their conversation covered the HD research pipeline, the history of the discovery of the HD gene, the future of HD clinical trials and HD science, how to participate in HD research if clinical trials are not right for you, and more. To listen to the full conversation, click here.