ENROLL-HD

 Huntington's Disease / Posted 1 year ago

Enroll-HD is a global observational study for Huntington’s disease families

The purpose of this study is to collect information from study participants, allowing researchers to understand more about the disease, with the aim of accelerating the discovery and development of potential treatments for Huntington’s Disease (HD).
It will monitor how the disease appears and changes over time in different people; those who have a clinical diagnosis and those who are at-risk of developing the disease. ENROLL-HD also collects information from HD family members and carers.

 

  • 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 start date : 10/02/2014
  • Study end date : 01/08/2063
  • Wales-Based Study Contact : Prof Anne Rosser

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