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

Study ID: 16010
Short Title: Enroll-HD
Organisation: University Hospital Southampton NHS Foundation Trust
Location: Southampton General Hospital
Condition: Huntington's disease
Main Specialty: Neurological disorders
Expected End Date: 01/08/2063
Postcode: SO16 6YD
Contact Name: R&D department
Contact Email: R&Doffice@uhs.nhs.uk
Active: Yes

Inclusion Criteria

Informed consent from the potential participant or legal representative is a prerequisite for study participation. Individuals eligible to participate in Enroll-HD will be classified into two major categories: 1. Carriers - the primary study population, consisting of individuals who carry the HD gene expansion mutation. 2. Controls - the comparator study population, consisting of individuals who do not carry the HD gene expansion mutation. These two major categories can be further subdivided into six different subgroups of eligible individuals: a. Manifest/Motor-manifest HD: Carriers with clinical features that are regarded in the opinion of the investigator as diagnostic of HD. b. Pre-Manifest/-Motor-manifest HD: Carriers without clinical features regarded as diagnostic of HD. c. 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. d. 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. e. Family Control: Family members or individuals not related by blood to carriers (e.g., spouses, partners, caregivers). f. 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.

Exclusion Criteria

1. Individuals who do not meet inclusion criteria 2. Individuals with choreic movement disorders in the context of a negative test for the HD expansion mutation 3. For Community Controls: those individuals with a history of or concurrent major central nervous system disorder will be excluded (e.g. stroke, Parkinson disease, Multiple Sclerosis, etc.)

Study summary:

Enroll-HD is a multi-centre, multi-national, prospective observational study of Huntington’s disease (HD) in a global population. It is an open-ended study which will include as many eligible participants as are willing, who will be asked to participate in as many annual study visits as possible. The goal of Enroll-HD is to build a large and rich database of clinical information and biospecimens. These will serve as a basis for future studies aimed at developing tools and biomarkers for progression and prognosis, identifying clinically relevant phenotypic characteristics and establishing clearly defined endpoints for interventional studies. The Enroll-HD study aims to improve the understanding of the dynamic phenotypic spectrum of HD and the underlying disease mechanisms by -collecting natural history data covering cognitive, behavioural and motor domains which will allow estimates of rates of progression in HD and insights into the neurobiology of HD -collecting data and biospecimens to identify genetic and environmental factors influencing and/or modifying HD characteristics and disease progression -promoting studies that may provide clues to the underlying disease mechanisms of HD. Enroll-HD aims to promote the development of evidence-based guidelines to inform clinical decision making and improve health outcomes for the participant/family unit by: -assisting in the identification of beneficial interventions -facilitating the dissemination and implementation of currently proposed best clinical practices -providing a platform for the conduct of outcome research -promoting exploratory data analysis projects that may identify processes to further improve the health care of affected individuals and their families. The Enroll-HD study aims to provide a platform to support the design and conduct of clinical trials by: -collecting longitudinal data to inform disease modelling studies -facilitating the identification of potential trial participants.

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