Deep structural phenotype of hypertrophic cardiomyopathy
Research type
Research Study
Full title
Deep structural phenotype of hypertrophic cardiomyopathy; from mutation to hypertrophy
IRAS ID
324350
Contact name
George Joy
Contact email
Sponsor organisation
University College London Hospitals NHS Trust
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Hypertrophic cardiomyopathy (HCM) is the commonest genetic disease characterised by heart muscle thickening. It affects 1 in 500 adults and is a major cause of sudden cardiac death in the young, heart rhythm disease, stroke and heart failure. Although defined clinically by thickening, this thickening has been hard to treat. We know there are microscopic (deep structural) changes in the heart muscle that are closer to the actual biology of the disease with chaotic cell alignments (disarray), abnormal small blood vessels. Both change early, cause electrical abnormalities and are likely to be better measures of disease and supply potential treatment targets. For the first time, these are now reliably measurable, in one scan on patients, even before thickening has occurred. In 205 patients with a range of disease (early, late, controls, and with known genetics) we will measure these changes. Our pilot data on 20 individuals with gene mutations and without hypertrophy already shows considerably more disarray than healthy controls with important electrical consequences measured by ECG imaging. We think we can completely change our understanding of disease, how it is defined, how it develops, the subcategories, and identify groups with treatment targets for new pending therapies.
REC name
North West - Haydock Research Ethics Committee
REC reference
23/NW/0178
Date of REC Opinion
20 Jul 2023
REC opinion
Further Information Favourable Opinion