Clinical Research
The Huntington’s disease center is fully engaged in a wide range of clinical research, including testing of new drugs as well as managing studies to improve diagnosis and management of Huntington’s disease. There are studies for people who currently are diagnosed with HD, as well as studies for individuals who are at risk for developing the disease due to family history.
To learn more about how to participate in these studies or for information please contact us at 617-724-2227. Any such study is subject to approval and monitoring by the Institutional Review Boards. Participation is always optional and does not affect clinical care and management.
Genetics and Genetic Counseling and Testing
HD is a genetic disorder and is usually inherited within families with a history of the disease. The genetic mutation that causes HD was discovered in 1993. Men and women have an equal chance of inheriting the gene from an affected parent. The children of an individual with HD each have a 50 percent chance of inheriting the gene. A person who inherits the Huntington’s disease genetic mutation will develop the symptoms of the disease if he or she lives long enough.
It is currently possible to undergo testing to determine if a patient carries the mutation which causes Huntington’s disease. For those patients who are exhibiting symptoms, genetic testing helps to ensure an accurate diagnosis. For individuals at risk for HD, predictive genetic testing (pre-symptomatic testing) may help with making informed decisions about issues such as family planning.
Predictive genetic testing is offered to at risk individuals following specific clinical guidelines. The testing process includes genetic counseling and a psychological assessment. Those undergoing testing must select a support person to participate in the process. Test results are delivered in person and follow-up care is available as needed.
Laboratory Research
Massachusetts General Hospital has the many of the world’s leading experts on HD. The MassGeneral Institute for Neurodegenerative Disease (MIND) facilitates all aspects of research on HD, from the very basic molecular work that allows us to better understand disease mechanisms, to screening potential drugs in test tube models, and testing compounds on mouse models of the disease in preparation for human clinical trials. For more information, visit the research page at www.mghmind.org.
Brain Donation Program
Many patients are interested in participating in research by making plans to donate their brains for HD research at the time of their death. These donations are vital for moving research forward and have led to many discoveries about how HD affects the brain, leading to clues for treatment. MGH hosts a large brain bank for research purposes. For information about costs and planning, call Jamie Hill at 617-724-2227 or Dr. Steven Hersch at 617-726-1254. The 24-hour contact number is 617-724-5700 pager #21300.
Clinical Trials
Creatine Safety, Tolerability, & Efficacy in Huntington’s
Disease (CREST-E)
The Huntington Study Group (HSG), under the direction of Steven M. Hersch, MD,
PhD (Massachusetts General Hospital) and Bernard Ravina, MD, MSCE (University
of Rochester) is conducting a multi-center, double-blind, placebo-controlled
research study of high-dose creatine. CREST-E is designed to determine whether
creatine slows the functional decline in Huntington’s disease (HD). This
research study will recruit subjects who are 18 years of age or older with a
clinical diagnosis of HD and last approximately 36 months for each subject.
Sites in North America (United States & Canada), the United Kingdom, Australia, and New Zealand are participating in this research study. For further information on this research study and a local site conducting this study, please contact:
Steven M. Hersch, MD, PhD
Principal Investigator
Massachusetts General Hospital
Boston, MA 02129
(617) 726-5892
Huntington Study Group
University of Rochester
Rochester, NY 14620
(800) 487-7671