Highlights from HSG’s 2022 Annual Meeting, Interview Study, and Genetic Counselor Awareness Day

Highlights from HSG’s Annual Meeting 2022 

Last weekend, clinicians, researchers, and industry partners from around the world assembled in Tampa, FL for HSG’s Annual Meeting.  Pharmaceutical representatives presented the latest updates from the HD drug pipeline, and academic investigators presented their studies on HD progression, biomarkers, and more. Highlights included:  

• An update from Neurocrine on the KINECT-HD study of valbenazine for treatment of chorea in HD. In December of 2021, the company announced that the drug was well-tolerated and improved symptoms of chorea in people with HD. At the meeting, Neurocrine was able to present long-term follow-up data from study participants that showed significant improvement in chorea when taking valbenazine. 
• Roche announced that their new Phase 2 trial of tominersen, GENERATION HD2, is expected to begin recruitment before the end of the year.  
• Roche also announced that it is developing two additional disease-modifying therapies for HD, an oral huntingtin-lowering therapy and a new spinally-delivered drug that would target only mutant huntingtin.  
• PTC gave an update on PIVOT-HD, their study of the oral huntingtin-lowering compound, PTC-518. Despite a pause in dosing at US sites while PTC gathers additional data for the FDA, the study is ongoing at European and Australian sites and PTC plans to reopen US recruitment when possible. The trial is currently open to people with very early HD – those who are not yet showing signs of movement symptoms and don’t yet have major functional impairments. At HSG, PTC also shared that PIVOT-HD will be expanding to include people with manifest HD, meaning those with some movement symptoms and functional impairments.  

HDSA staff members also connected with industry and nonprofit partners, learned about the latest in HD care and research, and presented four posters. These shared data related to community use of HDSA resources, including HD Trialfinder, as well as disability services, youth programs, and educational events and resources.  

Interview Study seeking voices of HD caregivers aged 18-28  

Researchers at Boston University are seeking perspectives from adult child who are one of the primary caregivers for a parent who is symptomatic with HD. The group is interested in hearing your story — how you came to be providing care for your parent, what caregiving looks like for you, and how caring for your symptomatic parent may have influenced personal decisions regarding genetic testing for HD. The researchers also hope to learn about any advice you’d wish to share with other adult child caregivers, genetic counselors, or even policymakers. The survey is open to individuals who are English speaking, age 18 to 28, identify as one of the primary caregivers for a symptomatic parent with HD, and have heard of the option of genetic testing for the HD gene (HTT). To learn more, click here.  

Happy Genetic Counselor Awareness Day!  

November 10th is Genetic Counselor Awareness Day! Genetic counselors are a critical piece of a multidisciplinary HD care team. They can help individuals and families decide whether genetic testing is the right choice for them, they educate about what a genetic diagnosis means, and they provide support to individuals and families during and after their genetic testing process. In addition to offering direct support in the genetic testing process, genetic counselors’ extensive training in medical genetics can make them an important part of research teams, community education initiatives, and more. To learn more about genetic counselors, click here. To learn more about genetic testing for HD, click here.