This week marks 25 years since the identification of the gene that causes Huntington’s disease. The discovery of the repeating CAG sequence in the DNA was made in 1993 by the Huntington’s Disease Collaborative Research Group, an assembly of scientists across six institutions. They had united nearly a decade earlier, in 1984, after Jim Gusella’s work had narrowed the search down to chromosome 4. Integral to this discovery was a huge community of families affected by HD in the Lake Maracaibo region of Venezuela, as well as families in the USA, who donated their blood and their time so that the researchers could study their genes and connect the dots. The 20-year Venezuela study was championed by Nancy Wexler, and when the gene was finally identified, the published paper had nearly sixty individual authors. Twenty-five years later the HD community is on the brink of an unprecedented clinical trial that focuses on the HD gene itself and aims to reduce levels of the harmful huntingtin protein. This progress was made through extraordinary collaborative effort among researchers and families.
Research Survey on Emotional Well-being
The survey section of our website lists current questionnaire studies from all over the world that have been approved by university review boards and vetted by HDSA staff scientists and social workers. This week, researchers from the University of Leicester in the UK are seeking help from our HDSA family. If you are at risk for HD and have not been tested, have tested positive, or have been diagnosed, please consider filling out an online survey about emotional well-being. This will provide valuable information about how people affected by HD can be best supported.
Clinical trial of a drug to combat irritability in HD
SRX246 is a potential treatment for symptoms of irritability in people with HD that is currently being tested in a Phase II clinical trial. The study is referred to as STAIR (Safety, Tolerability, and Activity in IRritable subjects with HD). It is designed to determine whether SRX246 is active, safe, and well-tolerated in humans, and whether it affects mood and behavior. The study will test two doses of SRX246 in different groups of people and will compare the results with those from a group taking a placebo. Recruitment is ongoing at 22 sites in the US. Read more about the study on HD Trialfinder create a profile to match and find a site near you. If you live in the Seattle area and are interested in participating, please contact Swedish Medical Center at 206-386-3878 or email mary.lessig@swedish.org.
