Last week saw the approval of a genetic therapy for a rare disease called hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis). As with Huntington’s disease, every child of a parent with hATTR amyloidosis has a 50/50 chance of inheriting the gene that causes it, and symptoms develop and worsen over a long period of time. It affects the part of the nervous system that controls involuntary functions, leading to problems with the gut, sweat glands, and heart, as well as causing numbness and pain in the limbs. The newly approved drug, called patisiran, stops the mutant gene from making toxic protein. If this sounds familiar, it’s because several drugs in development for Huntington’s disease use a similar approach. The success of a drug of this type bodes well for ongoing preclinical and clinical studies of gene therapy for HD. In fact, this week HDBuzz discussed the recent announcement from UniQURE about their upcoming trial, which will involve a single brain surgery to deliver an experimental genetic treatment.
Genentech’s HD Quiz
One of the companies working on a genetic approach to treatments for HD is Genentech (known as Roche outside of the US). At this year’s Convention Genentech representatives spoke about the ongoing Phase 3 study of their huntingtin-lowering drug RG6042. If you’re curious about the details, a recent post from blogger Gene Veritas delved more deeply into the redesigned study.
In addition to conducting this pivotal trial, Genentech is committed to educational outreach around Huntington’s disease. They created an informative website and a quiz that you can complete to test and share your knowledge about HD.
Blog post from HDSA Berman-Topper Fellow
Dr. Tamara Maiuri, recipient of the 2017 HDSA Berman-Topper Fellowship, blogs regularly about her lab work and research findings in the Truant lab at McMaster University. Check out her latest post here. She’s working on understanding how huntingtin may act as a scaffold to support the repair of DNA damage. Her recent focus is a protein called PARP that helps huntingtin link arms with DNA.