Huntington's Disease Society of America (HDSA) Center of Excellence at the Neurological Institute of New York
Columbia University's HDSA Center of Excellence offers comprehensive services for individuals affected by Huntington's Disease (HD) and their families. We provide direct patient care as well as opportunities to participate in research to better understand and treat HD.
Our specialized multidisciplinary team of health professionals provides the highest level of clinical care for HD patients and their families. In addition to neurological, and psychiatric diagnosis and treatment, we offer social services, and a genetic counseling and testing program. Physical and occupational therapy are offered on-site at the Neurological Institute at 710 W168th street. The Center operates on Fridays from 8:00 AM to 1:00 PM, by appointment only. We actively participate in the Huntington Study Group (HSG), a national consortium of HD Centers. We are currently recruiting for the following studies:
Research
Observational study
ENROLL HD: NCT01574053 (CHDI)
Enroll-HD is a longitudinal, observational, multinational study whose goal is to develop a comprehensive repository of prospective and systematically collected clinical research data (demography, clinical features, family history, genetic characteristics) and biological specimens (blood) from individuals with manifest HD, unaffected individuals known to carry the HD mutation or at risk of carrying the HD mutation, and control research participants (e.g., spouses, siblings or offspring of HD mutation carriers known not to carry the HD mutation). More than 20,000 participants have now enrolled into the study for annual assessments (www.enroll-hd.org/for-researchers/access-data/) to learn more.
PI: Karen Marder. Call Alana Maldonado 212-305-8873
Huntington’s Disease: CHANGE-HD NCT01860339
Child to Adult Neurodevelopment in Gene Expanded Huntington’s Disease
Duration: 5 years, yearly visit Inclusion: Ages 6-30 with parent/grandparent with HD, Procedures: blood draw, structural MRI, lifestyle questionnaires, cognitive tests, motor tests.
PI: Dr. Rao. Call Jennifer Oscherician 212-305-1647
HD-Balance Study
Individuals with Huntington's disease (HD) have balance impairments that put them at risk for falls, however there are no standardized outcome measures of balance that are specific to HD. Outcome measures are vital to understanding the nature of balance impairments as well as to evaluate improvement in balance following interventions, including medication or rehabilitation. The purpose of this study is to administer a battery of balance outcome measures that have been used in people with neurodegenerative diseases to determine which items are appropriate for people with HD. This study requires 1 in person assessment (with a second optional in person assessment one week later). The study time takes 2 hours each session, and participants will undergo some patient-reported assessments as well as testing of balance and walking. This study will take place at Teachers College, Columbia University at 525 W 120th St. CUMC IRB: AAAU1786.
For information, contact Chelsea Macpherson, PT, DPT, NCS at 212-678-3916 or neurorehablab@tc.columbia.edu
For more information about participating in research, please contact Jasim Uddin at (212) 305-4597 or via email at ju2189@cumc.columbia.edu.
For more clinical trials and studies, please visit the Taub Institute for Research on Alzheimer's Disease and the Aging Brain website.
HD Patient Care
For new referrals and appointments at the Neurological Institute, please contact Deborah Thorne, LCSW at (212) 305-9172 or via email at dzt1@cumc.columbia.edu.
Genetic counseling and testing, please contact Amanda Bergner, CGC at 212 304 7703 or at ab4607@cumc.columbia.edu.
Staff
Karen Marder, MD, MPH – Attending Neurologist, COE Director
Deborah Thorne, LCSW – Social Worker, Director of Clinical Care
Amanda Bergner, MS, LCGC – Genetic Counselor
Ashwini Rao, EdD, OTR – Occupational Therapy
Lori Quinn, EdD, PT – Physical Therapy
Jill Goldman, MS, MPhil, CGC – Genetic Counselor
Helen Mejia Santana – Senior Program and Regulatory Manager
Jasim Uddin – Clinical and Research Coordinator
Alana Maldonado – Research Assistant
Other Helpful Resources
Huntington's Disease Society of America (HDSA)
Principal Investigator
Karen S. Marder, MD, MPH
- Sally Kerlin Professor of Neurology (in the Gertrude H. Sergievsky Center, in the Taub Institute on Alzheimer's Disease and the Aging Brain, and in Psychiatry) at CUMC
