Research Program

As one of the world's leaders in both clinical and basic research, the Huntington's Disease Center at Johns Hopkins offers a wide range of opportunities for individuals and their families to participate in clinical research studies of Huntington's disease (HD). Participants may receive clinical testing and other services related to these studies. The National Institute of Health (NIH), the Huntington's Disease Society of America (HDSA), and the CHDI Foundation provide major funding support for the Center's on-site research programs.

  • Basic Research - laboratories looking for a cure for HD
  • Clinical Trials - currently enrolling - testing experimental treatments for HD (closed clinical trials)
  • Genetic Studies - looking for factors that influence disease progression

Clinical Trials - currently enrolling

Clinical studies can include experimental treatments, such as drug trials, and observational studies. Studies are often conducted under the auspices of the Huntington Study Group or may be sponsored by pharmaceutical and biotechnology companies or the National Institute of Health. The Center also conducts a number of trials on its own.

  • Sage Studies: Perspective Program
  • Generation HD2: A Phase II study evaluating Tominersen in younger adults between the ages of 25-50
  • uniQure: Phase 1/2 clinical trial investigating the drug AMT-130
  • HDClarity: A Multi-Site Cerebrospinal Fluid Collection Initiative to Facilitate Therapeutic Development for Huntington's Disease
  • Enroll-HD: A Prospective Registry Study in a Global Huntington Disease (HD) Cohort

Genetic Studies

Hopkins researchers have been recognized as leaders in the fields of Huntington's disease (HD) gene discovery and genetic testing. Recent advances have expanded the clinician's ability to provide more exact information about age of onset and other factors important to families dealing with HD.

Currently, we are searching for the factors that influence how fast HD progresses. The length of the CAG repeat in the huntingtin gene is one major predictor of age of onset. However, we have evidence of other familial factors that are likely genetic contributions to age of onset as well. We and other centers have found that the length of the CAG repeat does not predict the rate of progression and we are searching to see if familial factors might be involved in this as well.

We are also very interested in finding other genes, which can cause HD-like diseases. The research program, run by Dr. Russell L. Margolis, has identified several such genes, including HDL-2, DRPLA, and SCA-12. Patients with HD-like syndromes but who do not have the HD gene mutation are of great interest for our research programs.

Testing for these studies is performed by the Neurogenetic Testing Laboratory with The Baltimore Huntington's Disease Center.

For research information, please contact: Etta Bernard at [email protected] or 410-614-7671 

Closed Studies

HTTRx Background