More than 250 individuals from Huntington's disease (HD) families and their friends participated in the Huntington Study Group (HSG) Symposium and Clinical Research Workshop held in Seattle on November 10, 2012. Attendance was higher in Seattle than any of the prior cities hosting the symposium over the previous 5 years. At this "one of a kind" meeting HD families sat at circular tables with clinical researchers from all over the world, sharing information, hearing about new research -- and most important -- learning from each other.
The day was divided into 3 parts: symposium, poster, and workshop sessions . . .
The Symposium: The morning session was jump-started by a duo of remarkable family advocates who work tirelessly for Huntington's disease: Charles Sabine, a former NBC foreign correspondent from England who has tested positive for the expanded gene, and Dr. Mary Edmondson, a psychiatrist from North Carolina who tested negative. Both described -- from their different perspectives -- the impact that HD has had on them and their families. Particularly memorable points:
- They questioned why the word "incurable" was emphasized in definitions of Huntington's Disease? Many diseases are incurable, including cancer, influenza, and the common cold. "The word is irrelevant, serving no purpose other than to cause utter fear".
- They emphasized the reality of treatments already available to treat HD symptoms, and the need to work towards better knowledge of and access to this care.
- Our objective should be increasing the quality of life for all HD patients and insuring that each generation fears HD less than the previous generation.
Other speakers included:
- Ashwini Rao, EdD, OTR, an expert in physical therapy from Columbia University spoke about physical therapy and that it should be more available for HD after changed Medicare definitions for services covered by insurance. In a related (poster) presentation, Jennifer Thompson from Australia reported on a study that showed combined therapy (including PT) "reduced rates of motor deterioration, increased strength and maintained balance, with some improvements in cognitive functioning", showing that therapies are effective "treatments for HD".
- Pierre Tariot, MD, Banner Alzheimer's Institute in Arizona spoke about a new trial in premanifest (before symptoms) individuals of familial Alzheimer's, a rare kind of Alzheimer's caused by a single gene defect that presents at a young age. Though for a different disease, this is an important milestone for the HD community because if the FDA has approved the use of MRI as the way to measure whether the drug is effective in premanifest individuals in Alzheimer's, they will approve it for HD as well.
- Blair Leavitt, MD, University of British Columbia spoke about the increased prevalence of HD, suggesting that the actual number of HD patients in the U.S. is closer to 45,000 than the previously accepted figure of 30,000. Part of the increase is due to longer life expectancies, or because people with CAG counts in "reduced penetrance allele" ranges (36-39), are more likely to develop HD only if they live into advanced age. A CAG count of 40 or more is usually necessary to develop the disease prior to old age. He also spoke about "intermediate alleles" which is a Huntington gene that carries between 27 and 35 CAG repeats. In this case the individual will not develop HD, but (mostly in male parents) may pass a longer CAG repeat to a child. That risk is greater in those with a higher range repeat (35) than those with a lower range repeat (27). The magnitude of risk for expansion is still under study.
- Stephen Hersch, MD, PhD, Massachusetts General Hospital, Boston reported on results of high dose creatine in a small group of at-risk individuals (some gene positive, some negative) for the expanded gene who had no diagnosable symptoms. He reported that MRI scans and blood test markers suggested improvement in those gene positive individuals who took creatine. This work has not yet been published in a peer-reviewed journal.
- Kevin Conley, PhD, and Elizabeth Aylward, MD, University of Washington, Seattle reported that damaging metabolic changes in muscles of premanifest and early symptomatic HD individuals is present and that greater changes occur in leg than that in hand muscles.
Poster session: There were 32 posters which included the PT report discussed earlier: (showing the benefit of therapy in terms of motor, strength, balance and cognitive function) and other highlights:
- Jeniffer Thompson from Australia reported on a study of a multidisciplinary rehabilitation program that resulted in associated with physical (increased strength and balance) and cognitive benefit in early to middle stage HD patients.
- Tom Bird, MD, University of Washington, Seattle reported on the co-occurence of Alzheimer's and HD in individuals with onset of HD in old age in a small number of patients.
- Michael Bull, M.S. University of Rochester reported on a study in progress of feasibility of web-based clinical assessment of patients in their home setting -- a service like this would improve much needed access to care for those far from an HD center or doctor.
- Sandra Kostyk, M.D. Ohio State University reported on a small
study showing that Xenazine® (tetrabenazine) improved gait and
balance measure in HD patients with chorea.
- Huntington Study Group COHORT Investigators in 2 separate posters reported that (1) only 25% of symptomatic HD participants in the COHORT study had been treated for chorea. and (2) there was no increase in suicide or suicide attempts in those COHORT participants on Xenazine®.
Workshop: In this session Charles Sabine and LaVonne Goodman, M.D., first discussed the importance of clinical human research and that participation is the only way to find new drugs. We heard about clinical studies in the Northwest including PREDICT-HD, TRACK-HD and Enroll-HD soon to open for enrollment at University of Washington and Evergreen Neuroscience Center. We learned about CREST and Reach2HD clinical trials, both occurring at Evergreen.
The high point of this session was the four research participants, who with their care-partners and study coordinators told of their personal experiences at different sites in the Northwest. As summed up by one young woman talking about participation: "just do it". Subsequently round-table discussion groups identified barriers to family participation which included:
- The need to have a partner for many trials: Those who live alone, or don't have a care partner feel left out.
- The inability to participate if on other drugs needed to treat symptoms.
- The logistics of excessive travel time, and loss of income for days taken off work by the participant and partner.
Overall, the barriers identified were similar to those found in earlier workshops and clinical research surveys, the first of which was in the Northwest.
Overall the day was, in the words of a group of attendees "inspiring, energizing and full of hope".