Origin-HD
Research type
Research Study
Full title
Origin-HD: Genetic modifiers of HTT CAG intergenerational repeat instability in male Huntington’s disease gene carriers
IRAS ID
261138
Contact name
Edward Wild
Contact email
Sponsor organisation
University College London
Clinicaltrials.gov Identifier
122185, EDGE ID
Duration of Study in the UK
1 years, 11 months, 30 days
Research summary
The genetic abnormality that causes Huntington's disease - a CAG repeat expansion in the HTT gene - is highly unstable when transmitted and can grow or shrink from one generation to the next. There is a strong bias towards an expansion in HTT CAG from male carriers, with ~65% of all transmissions resulting in an expansion. The primary aim of the study is to try to identify genetic modifiers of CAG instability when transmitted from one generation to the next by comparing the instability of HTT CAG in sperm DNA with presence of known disease-modifying genetic variants in somatic (blood) DNA.
UCL will act as the managing research organisation and central coordinating body for the study and study sponsor. Approximately 50 clinical study sites will participate in the study in the UK, United States, Canada, Europe, and Australasia.
Participant activities will be carried out at a single visit; semen donation will occur either during this visit or later, at home. During the Origin-HD visit, medical history, clinical, and phenotypic data from the last Enroll-HD visit will be reviewed and updated. These data will determine participant eligibility and will be used in the analysis of the biological samples. Participants will then provide a blood sample and will be provided with a semen sample collection kit. The semen sample may either be provided on the same day at the study site or at home and then returned as instructed by the local study site staff.
REC name
West Midlands - Solihull Research Ethics Committee
REC reference
20/WM/0233
Date of REC Opinion
1 Feb 2021
REC opinion
Further Information Favourable Opinion