DIGG-HD
Research type
Research Study
Full title
Discovering Intergenerational Genes in Huntington’s Disease Study
IRAS ID
341282
Contact name
Davina J Hensman Moss
Contact email
Sponsor organisation
University College London
Clinicaltrials.gov Identifier
Z6364106/2024/01/87 , Data Protection Office registration number
Duration of Study in the UK
2 years, 9 months, 1 days
Research summary
Huntington’s disease is a devastating neurodegenerative disease caused by an expansion of a repetitive CAG sequence in the DNA, in a gene called huntingtin. Longer CAG repeats are associated with earlier onset of disease. When this gene is passed from one generation to the next the size of the repeat sometimes changes, with the consequence that the child could develop Huntington’s disease at an earlier age than their parent, or cause new cases of Huntington’s disease in those without a history of it in their family.
This is a research project which aims to get a better understanding of how the Huntington’s disease gene is inherited. This is important firstly as greater knowledge of inheritance would provide people with more information when they are going through genetic counselling and may aid decisions surrounding reproductive planning if they decide to have children. Secondly, we will explore the possibility of using semen to track treatment response in medicines being developed to treat Huntington’s disease.
Men with expansions in the gene associated with Huntington’s disease will be recruited and invited to donate blood and semen samples along with some basic clinical information. DNA will be extracted from the samples and will undergo genetic analysis. Targeted sequencing will be done to look at the variability of CAG repeat lengths in the samples. The extent of this variability will be compared between blood and semen, and we will examine the reproducibility and stability of this measure over time. The role of paternal age and other genetic factors on the CAG variability will also be examined.REC name
London - Bloomsbury Research Ethics Committee
REC reference
24/LO/0611
Date of REC Opinion
15 Oct 2024
REC opinion
Further Information Favourable Opinion