Highlights from the EHDN 2014 Plenary Meeting
By: Laura E. Clemens and Erik K.H. Jansson
The 8th European HD Network Plenary Meeting was held September 19–21 in Barcelona, Spain, and brought together researchers, clinicians, health professionals, support groups and HD family members, to share the latest in HD research and treatment.
Research sessions highlighted recent findings in the biology of HD. Drs. Sarah Tabrizi and Bernhard Landwehrmeyer summarized current knowledge of the natural history of HD. Dr. Tabrizi presented new data on brain connectivity, which is reduced during HD progression, while Dr. Landwehrmeyer emphasized the value of human observational studies such as ENROLL-HD for understanding the natural history of the disease. On the topic of genetic disease modifiers, Dr. Lesley Jones showed that many genetic modifiers of HD appear to be connected to DNA repair and mitochondrial function. Dr. Jong-Min Lee further reported on a recently conducted analysis of genetic modifiers in more than 4,000 people, which identified markers that substantially influence the age of onset of HD. During a session on peripheral tissue pathology, Drs. Maria Björkqvist and Michael Orth showed that major pathologies of adipose and muscle tissues have not been found in HD patients, and that it might be necessary to challenge the systems in order to reveal discrete deficits. Finally, a session on biomarkers included presentations by Dr. Blair Leavitt, who presented robust markers of disease progression and useful analysis techniques such as magnetic resonance spectroscopy, while Dr. Beth Borowsky explained the importance of proper evaluation of biomarkers to improve clinical trials.
The treatment of HD was a major focus of the meeting. Dr. Gillian Bates showed that muscle pathologies found in mouse models of HD were completely restored by inhibition of myostatin. Dr. Jan Frich demonstrated positive effects of physiotherapy on motor function and quality of life. The meeting further highlighted a large number of potential therapeutic compounds that are currently under or entering clinical investigation, including KMO inhibitors developed and tested by CHDI, which reduce the production of quinolinic acid and thereby prevent excitotoxicity; pridopidine, a dopamine transmitter stabilizer (Pride-HD study); laquinimod, an immunosuppressive compound (Legato-HD study); PDE10A antagonists, intended to increase striatal cAMP levels (Amarylis and APACHE studies) and Selisistat, a sirtuin 1 inhibitor that modulates the acetylation status of mHTT. Treatment strategies such as deep brain stimulation and gene silencing to lower mHTT levels were also discussed. Special emphasis was given to Dr. Tabrizi’s announcement of a safety and tolerability trial of intrathecal anti-sense oligonucleotide delivery, starting in the beginning of 2015.
Clinicians as well as HD family members also shared their experiences. Dr. Alexandra Dürr revealed that even though information available on HD has dramatically increased during the past 15 years, only 5–25% of at-risk individuals decide to be tested. A movie night featuring two touching documentary films further illustrated the struggles and perspectives of individuals affected by HD.
Jeffrey Carroll and Edward Wild from HD Buzz, who enriched the meeting with daily roundups, amused the audience by raising awareness for HD with the “Pie in the Face Challenge,” first targeting Dr. Landwehrmeyer and then Mr. Carroll himself.
The meeting also celebrated the ten-year anniversary of EHDN. Participants honored and bade farewell to Dr. Landwehrmeyer, who stepped down after ten years as EHDN’s chair, and welcomed Dr. Jean-Marc Burgunder as the new chair. Dr. Landwehrmeyer spoke with enthusiasm of the planned and ongoing clinical trials in HD, which he called, “an undeniable success for the HD community.” He indicated that we are getting closer to reaching the goal of establishing disease-modifying treatments.
More details about the conference can be found at http://www.hdbuzz.net