Enroll -HD: A Prospective Registry Study in a Global Huntington's Disease Cohort
Purpose
Enroll-HD is a longitudinal, observational, multinational study that integrates two former Huntington's disease (HD) registries-REGISTRY in Europe, and COHORT in North America and Australasia-while also expanding to include sites in Latin America. More than 30,000 participants have now enrolled into the study. With annual assessments and no end date, Enroll-HD has built a large and rich database of longitudinal clinical data and biospecimens that form the basis for studies developing tools and biomarkers for progression and prognosis, identifying clinically-relevant phenotypic characteristics, and establishing clearly defined endpoints for interventional studies. Periodic cuts of the database are now available to any interested researcher to use in their research - visit www.enroll-hd.org/for-researchers/access-data/ to learn more.
Condition
- Huntington's Disease
Eligibility
- Eligible Ages
- Over 18 Years
- Eligible Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- Carriers: This group comprises the primary study population and consists of individuals who carry the HD gene expansion mutation. - Controls: This group comprises the comparator study population and consists of individuals who do not carry the HD expansion mutation. These two major categories can be further subdivided into six different subgroups of eligible individuals: - Manifest/Motor-manifest HD: Carriers with clinical features that are regarded in the opinion of the investigator as diagnostic of HD. - Pre-Manifest/-Motor-manifest HD: Carriers without clinical features regarded as diagnostic of HD. - Genotype Unknown: This group includes a first or second degree relative (i.e., related by blood to a carrier) who has not undergone predictive testing for HD and therefore has an undetermined carrier status. - Genotype Negative: This group includes a first or second degree relative (i.e., related by blood to a carrier) who has undergone predictive testing for HD and is known not to carry the HD expansion mutation. - Family Control: Family members or individuals not related by blood to carriers (e.g., spouses, partners, caregivers). - Community Controls: Individuals unrelated to HD carriers who did not grow up in a family affected by HD. Data collected from community controls will be used for generation of normative data for sub-studies. Participant status will be captured in the study database using 2 variables: 1) Investigator Determined Status: this will be based on clinical signs and symptoms and genotyping performed as part of medical care, and will be updated at every visit; and 2) Research Genotyping Status: this will be based on genotyping conducted as part of Enroll-HD study procedures. Based on research genotyping, participants will be reclassified under this variable from Genotype Unknown to 'Carriers' or 'Controls'. Investigators and participants will be blinded to this reclassification.
Exclusion Criteria
- Individuals who do not meet inclusion criteria, - Individuals with choreic movement disorders in the context of a negative test for the HD gene mutation. - For Community Controls: those individuals with a major central nervous system disorder will be excluded (e.g. stroke, Parkinson's disease, multiple sclerosis, etc.). Participants under 18 may be eligible to participate (if they have juvenile-onset HD).
Study Design
- Phase
- Study Type
- Observational [Patient Registry]
- Observational Model
- Other
- Time Perspective
- Prospective
Recruiting Locations
Birmingham, Alabama 35294
Phoenix, Arizona 85013
Irvine, California 92697
Los Angeles, California 90095
Sacramento, California 95817
San Diego, California 92037
San Francisco, California 94158
Englewood, Colorado 80113
Farmington, Connecticut 06032
Washington D.C., District of Columbia 20007
Gainesville, Florida 32607
Miami, Florida 33431
Tampa, Florida 33612
Atlanta, Georgia 30329
Chicago, Illinois 60611
Chicago, Illinois 68612
Indianapolis, Indiana 46202
Iowa City, Iowa 52245
Kansas City, Kansas 66160
Wichita, Kansas 67226
Louisville, Kentucky 40202
Baltimore, Maryland 21287
Boston, Massachusetts 02215
Ann Arbor, Michigan 48105
Minneapolis, Minnesota 55415
St Louis, Missouri 63110
Omaha, Nebraska 68106
Las Vegas, Nevada 89102
New Brunswick, New Jersey 08901
New York, New York 10032
Rochester, New York 14618
Durham, North Carolina 27705
Winston-Salem, North Carolina 27157
Fargo, North Dakota 58122
Cincinnati, Ohio 42519
Columbus, Ohio 43021
Portland, Oregon 97239
Philadelphia, Pennsylvania 19107
Pittsburgh, Pennsylvania 15213
Columbia, South Carolina 29203
Nashville, Tennessee 37232
Houston, Texas 77030
Houston, Texas 77030
Salt Lake City, Utah 84108
Burlington, Vermont 05401
Charlottesville, Virginia 22908
Henrico, Virginia 23298
Kirkland, Washington 98034
Seattle, Washington 98195
Madison, Wisconsin 53705
More Details
- NCT ID
- NCT01574053
- Status
- Recruiting
- Sponsor
- CHDI Foundation, Inc.
Detailed Description
The primary objective of Enroll-HD 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). Enroll-HD is conceived as a broad-based and long-term project to maximize the efficiencies of non-clinical research and participation in clinical research. With more than 150 active clinical sites in 23 countries, Enroll-HD is now the largest HD database available and is accessible to any interested researcher - visit www.enroll-hd.org/for-researchers/access-data/ to learn more.