Objective: To provide an update on the global observational registry study of Huntington’s disease (HD) included in Enroll-HD, a platform for HD clinical research.

Background: HD is a rare neurodegenerative disease caused by an unstable CAG expansion on chromosome 4, with prevalence estimates between 7-10 per 100,000 for manifest HD. Registries of rare diseases provide the opportunity to maximize a collection of real-world clinical data and biological samples in a standardized process and can improve the knowledge of these diseases, drive research and optimize clinical care. Many of these registries are regional efforts with smaller cohorts and limited access to data and biological samples. The global registry included in Enroll-HD is expected to overcome these limitations.

Methods: A global observational registry with goals of facilitating clinical trial implementation, understanding HD and its disease mechanisms and improvement of clinical care was included in Enroll-HD. Eligible participants are HD gene carriers (presymptomatic and manifest), individuals at risk and controls. Assessments are annual and include core data covering motor, cognitive and behavioral features. Optional assessments include quality of life, physical functioning and work productivity measures. Phenotypic data are available for the research community at regular intervals through a simple downloading process, after a rigorous data monitoring process. As part of the annual assessments, Enroll-HD enables the collection of biological samples (lymphocytes, lymphoblastoid cell lines and DNA). Biological samples are also available for for clinical research from a central repository.

Results: Currently, Enroll-HD has 8037 participants recruited from 135 sites in North America, Europe, South America and Australia/New Zealand. Clinical data are available to researchers from 4,146 study participants (presymptomatic, 21%; manifest HD, 56%, mean CAG repeat expansion: 43.0, range: 36.0; 71.0). Biological samples are available for 98.6% of these study participants. The process for data and biological sample access and the platform infrastructure will be presented.

Conclusions: Enroll-HD provides high quality clinical data and biological samples that are the most geographically diverse ever found in HD, and brings together a novel set of tools for HD clinical research that is easily available for researchers interested in HD and other neurodegenerative diseases.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/enroll-hd-a-global-clinical-research-platform-for-huntingtons-disease/