Enroll-HD: Registry trial for participants with Huntington’s disease

Studying Huntington's Disease: Observing Participants

C
Christopher James

Primary Investigator

Enrolling By Invitation
100 years or below
All
Phase N/A
50 participants needed
2 Locations

Brief description of study

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.
 
THIS STUDY IS ENROLLING BY INVITATION ONLY - Patients with HD and their family members will be recruited from specialty clinics (either genetics or neurology) that advise and treat people affected by HD. In addition, in some areas community clinics and neurologists who see HD patients will see patients eligible for this study. The research staff will identify potentially eligible participants and inquire as to their willingness to participate in this study. Participants will also be requested to forward an invitation to their relatives to consider taking part in the Enroll-HD study. Participants may also receive information about the study through a website, clinical practice, support group, or newsletter. In addition, efforts will be made to provide educational information on the Enroll-HD study web portal.

Detailed description of study

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.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Healthy, Huntingtons Disease
  • Age: 100 years or below
  • Gender: All

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 Population
Patients with HD and their family members are recruited from specialty clinics (Human Genetics, Neurology, Psychiatry) that advise and treat people affected by HD. In addition, in some areas community clinics and neurologists who see HD patients recruit participants for this study. Participants also receive information about the study through websites, clinical practices, support groups, advocacy newsletters, etc. and place a direct request to be considered for participation in the study. Community controls are identified by study site staff (using advertisements, flyers and newsletters) with the support of the Enroll-HD operational staff.

This study investigates Huntington's disease (HD), a condition that affects the brain and causes movement, cognitive, and psychiatric disorders. The purpose of this study is to gather data on people with HD and their family members to better understand the disease. An observational study is a type of research study where data is collected by observing participants receiving routine care, without changing their treatment, which may focus on people using specific medications or having certain conditions to better understand how treatments work.

Participants in this study will have their clinical data and biological samples collected regularly. The study aims to create a large database of information that researchers can use to develop new tools and understand HD better. Participants will be asked to provide blood samples and information about their health and family history.

  • Who can participate: People with the HD gene mutation, their family members, and those without the mutation can join. Participants under 18 with juvenile-onset HD and community controls without major brain disorders may also join.
  • Study details: Participants will have health data and blood samples collected over time. Family members, both with and without the HD gene mutation, can participate, as well as unrelated community controls for comparison data.
Updated on 25 Sep 2025. Study ID: MMGE-HD-CHDI-QUAID, 1503192517
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Interested in the study?

This study is accepting only persons who receive care at a certain clinic or doctor or who are part of an invited group. Questions about this study can be directed to the study team listed in the description or contact your doctor to see if you are eligible.

Accepting Referrals by Invitation Only