Background Enroll-HD is a global observational registry study of Huntington’s disease (HD) designed to serve as a platform for clinical research. The first participant was recruited in 2012, and within less than 4 years, the study has in excess of 10 000 participants.
Aims Enroll-HD is a platform designed to facilitate clinical research in Huntington’s disease.
Methods Core data are collected annually on all research participants as part of this multi-centre longitudinal observational study of Huntington’s disease. Data are monitored for quality and accuracy using a risk-based monitoring approach. All sites are required to obtain and maintain local Ethics Committee approvals.
Eligible participants include gene carriers (presymptomatic and manifest) as well as individuals at risk, and controls. Assessments include core data covering motor, cognitive, and behavioural symptoms. 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 straightforward 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 distribution from a central repository for clinical research.
Results Currently, Enroll-HD has 10 901 participants recruited from 136 sites in North America, Europe, South America and Australia/New Zealand. Clinical data and biological samples are available to researchers from 4,146 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 study participants.
Conclusions Enroll-HD provides high quality clinical data and biological samples. As a research platform, Enroll-HD brings together a novel set of tools for HD clinical research that is easily available for researchers interested in HD and other neurodegenerative diseases.
Acknowledgements Enroll-HD is a longitudinal observational study for Huntington’s disease families intended to accelerate progress towards therapeutics; it is sponsored by CHDI Foundation, a nonprofit biomedical research organisation exclusively dedicated to developing therapeutics for HD. Enroll-HD would not be possible without the vital contribution of the research participants and their families.
- clinical study