By: Christina Vaughan, MD, MHS
For twenty years, the Huntington Study Group (HSG) has hosted an internationally recognized forum for training and educating HD researchers, combined with programs for families living with HD and other community members. HSG 2013 opened with the HSG Annual Meeting, including training courses open to all attendees, and the Local Practitioners’ Program for regional health care providers to participate in a specially designed CME program. The final day of HSG 2013 included the seventh annual HD Clinical Research Symposium, followed by an afternoon program dedicated to families affected by HD and members of the community.
In his welcome address, Ira Shoulson, MD, founder of the HSG in 1994, and Chair of the HSG Executive Committee 2008–2014, highlighted the recent transition of the HSG to HSG Ltd., an independent entity. He summarized the many accomplishments of the HSG over the last year, including the initiation of the REACH2HD, First-HD, and ARC-HD clinical trials, enrollment of more than 600 research participants in the 2-CARE trial, enrollment of nearly 500 research participants in the CREST-E trial, conclusion of the PREQUEL study (see “Editor’s Desk,” p. 8), and expansion of the HSG to more than 100 credentialed research sites in the USA and abroad.
Several other sessions stood out. The program began with a special presentation by Benjamin Gilmer, MD, MS, titled “Finding Dr. Gilmer: A mysterious tale of two family physicians named Gilmer who discover one another through a fateful disease.” The story was featured on the National Public Radio program This American Life.
Also noteworthy was a discussion led by Karen Anderson, MD, about alternative methods of healthcare delivery for individuals with HD. She underscored the need to reach out to non-specialists and to provide education about HD, and introduced Psychlink, a new HDSA program which allows generalists to submit inquiries on possible interventions for HD related behaviors to HD psychiatrists. Kevin Biglan, MD, MPH, provided an overview of the use of telemedicine in the delivery of care to individuals with HD. He emphasized that only a small minority are currently seen at specialty centers, despite the fact that such high-quality care results in better outcomes and opportunities to participate in clinical research. He has conducted “virtual house calls” with individuals with HD, and found that video conferencing can facilitate specialty care, offer insight into home life, and save patients and their care partners travel expenses. Further, virtual house calls may allow for greater research participation, with improved recruitment and retention in studies. Mark Guttman, MD, added that the telemedicine program in Northern Ontario has created virtual multidisciplinary clinics.
The final morning of HSG 2013 was dedicated to the 7th Annual HD Clinical Research Symposium, featuring keynote and platform presentations on a wide variety of topics. Matt Ellison, founder of the HD Youth Organization (HDYO), detailed the impact of HD on young people. Blair Leavitt, MDCM, FRCPC, highlighted the challenges of research into biomarker identification and described the international observational study TRACK-HD, as well as its extension TRACKOn-HD. Results of the study have recently been published in The Lancet Neurology, proposing a “toolkit” of outcome measurements including optimized MRI brain scan measures and cognitive tests.1 The extension study will utilize functional neuroimaging to identify measurements sensitive enough to reliably detect change in premanifest HD. Jane Paulsen, PhD, reviewed the results of PREDICT-HD (2001–2013), which identified multiple markers of disease present decades before clinical diagnosis. In focusing on the natural history of HD, the study revealed thirty-nine variables that showed significant annual change (see PREDICTions, p. 8). Neil Aronin, MD, addressed the use of gene silencing as a potential therapy for HD. And finally, Clement Loy, MD, reviewed data from the COHORT study, highlighting their finding that alcohol abuse is associated with earlier age of HD onset in women, but that there is no association between tobacco abuse and age of onset.
1 Tabrizi SJ, Scahill RI, Owen G, et al. Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington’s disease in the TRACK-HD study: analysis of 36-month observational data. Lancet Neurol. 2013 July;12(7):637-649. doi: 10.1016/S1474-4422(13)70088-7