One of the hottest topics in HD research over the past several years is the idea that CAG repeats in the HD gene can expand or shrink during a person’s lifetime. An adult whose blood test shows 42 CAG repeats in the HD gene might have some cells in their brain or liver which have 60, or 100, or even 1000 CAG repeats. Recent research using data from large, non-drug studies (like Enroll-HD) suggests that this extra lengthening of CAGs, known as “somatic repeat expansion” may cause symptoms to appear earlier.
This observation has led to the formation of new companies focused on creating drugs that could shrink CAGs, or at least stop the wild expansion, to slow the onset and the relentless progression of HD. One of these companies is called Triplet Therapeutics, and they have been working on a set of drugs to treat somatic CAG repeat expansion. This week they announced that they have selected a drug called TTX-3360 to move towards testing in HD clinical trials.
It’s not likely that any trial of TTX-3360 would begin before late 2021, but Triplet recently launched an observational (non-drug) study called SHIELD-HD, to help inform future drug trials. This Natural History Study will follow 60 participants for seven visits over two years, with medical history, blood donation, and neurological tests. One HD news source posted an article about SHIELD-HD this week.
Welcome New HDSA Scientific Advisory Board Members
HDSA’s Scientific Advisory Board (SAB) helps to oversee our three main research programs, the Human Biology Project, the Berman-Topper Family HD Career Development Fellowship, and the Donald King Summer Research Fellowship. This panel of more than a dozen HD scientists, doctors, and HD family members carefully evaluates and discusses applications at chosen times throughout the year, and provides feedback on major research-related decisions at HDSA.
We’re pleased to have added two new members to our SAB over the course of the past year.
Dr. Tanya Garcia, Associate Professor of Biostatistics at UNC Chapel Hill, was the first recipient of HDSA’s Human Biology Project Fellowship, which helped her to obtain the independent government funding required to run her own research team. She analyzes huge datasets to more accurately model motor, cognitive, and functional impairments linked to Huntington disease.
Emily Troncoso is a Harvard-educated lawyer and currently a Deputy General Counsel with Navy Federal Credit Union. She manages litigation and regulatory compliance on issues relating to Navy Federal products, services, and members. Emily is originally from outside Philadelphia and now lives in northern Virginia with her husband and two children. Her mother was diagnosed with Huntington’s disease in 2008. Previously, Emily has served as a board member for the D.C. Metro chapter of Huntington’s Disease Society of America and the Friends of Georgetown University HD Center.
The SAB will be hard at work soon, judging applications to the Human Biology Project, and they will meet in early October to decide on this year’s winners. We’re lucky to have Tanya and Emily on our team this year.