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Global registry for Huntington's Disease

Enroll -HD: A Prospective Registry Study in a Global Huntington's Disease Cohort

Observational CHDI Foundation, Inc. · NCT01574053

This study is gathering health information from people with Huntington's disease and their families to help researchers learn more about the disease and find better treatments.

Quick facts

Study typeObservational
Enrollment35000 (estimated)
Ages18 Years and up
SexAll
SponsorCHDI Foundation, Inc. Academic / other
Locations183 sites (Birmingham, Alabama and 182 other locations)
Trial IDNCT01574053 on ClinicalTrials.gov

What this trial studies

Enroll-HD is a longitudinal, observational study that combines two existing Huntington's disease registries and expands to include participants from Latin America. It aims to create a comprehensive repository of clinical data and biological specimens from individuals with Huntington's disease, their relatives, and control participants. The study involves over 30,000 participants and includes annual assessments to gather rich longitudinal data that can be used for research on disease progression and biomarkers. The data collected is made available to researchers to facilitate further studies in the field.

Who should consider this trial

Good fit: Ideal candidates include individuals with Huntington's disease, those at risk of carrying the HD mutation, and control participants who do not carry the mutation.

Not a fit: Patients who are not related to individuals with Huntington's disease or do not have a risk of carrying the HD mutation may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of Huntington's disease and lead to improved tools for diagnosis and treatment.

How similar studies have performed: Other studies have successfully utilized similar registry approaches to gather data on genetic conditions, making this a well-supported methodology.

Eligibility criteria

Show full inclusion / exclusion criteria 
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).

Where this trial is running

Birmingham, Alabama and 182 other locations

+133 more sites — see ClinicalTrials.gov for the full list.

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Huntington's DiseaseHuntington DiseaseJuvenile Huntington's DiseaseRegistryCohortCHDI
Last reviewed 2026-06-09 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.