Recruiting NCT01574053

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

— Observational Huntington's Disease

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied: This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to: Registry conditions: Huntington's Disease. Basic parameters: from 18 years · All.
What needs checking: Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place: United States, Argentina, Australia, Austria, Belgium +15
Next step: Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

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.

Primary outcome measures

Motor Assessments: Unified Huntington's Disease Rating Scale (UHDRS) 99 Motor, UHDRS '99 Diagnostic Confidence Level [Time frame: through study completion, an average of 1 year]
Functional Assessments: UHDRS '99 Total Functional Capacity, UHDRS '99 Functional Assessment Scale, UHDRS '99 Independence Scale [Time frame: through study completion, an average of 1 year]
Problem Behaviors Assessment-Short (PBA-s) [Time frame: through study completion, an average of 1 year]
Cognitive Assessments: Symbol Digit Modality Test; Stroop Color Naming; Stroop Word Reading; Categorical Verbal Fluency [Time frame: through study completion, an average of 1 year]

Eligibility 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).

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model: Other