Bio-SCOTCH v1.0
Research type
Research Study
Full title
Biomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH)
IRAS ID
331337
Contact name
Fraser C Goldie
Contact email
Sponsor organisation
NHS Greater Glasgow and Clyde
Duration of Study in the UK
3 years, 0 months, 2 days
Research summary
About 25% of heart failure cases are linked to genetic issues affecting the heart muscle. Genetic testing has become more common and numerous gene variants have been found. Some gene variants cause a rapidly progressive cardiomyopathy leading to heart failure, heart transplantation, or sudden cardiac death. Because of this, it crucial to identify specific genetic risks and closely monitor individuals with these gene variations. However, it's currently challenging to predict who will develop heart failure and who won't, so expensive and labour-intensive tests like electrocardiograms (ECG), echocardiography, and cardiac magnetic resonance (CMR) imaging are used for surveillance.
We propose to recruit 750 patients with or at risk of cardiomyopathy because of a gene variant identified in their family. We will focus on variants in genes known as TTN, MYBPC3, LMNA, FLNC and DSP. Patients that are family members without these gene variations will be invited to participate as controls. The study will be conducted in Scotland and recruit patients referred to the West of Scotland Inherited Cardiac Conditions (WOSICC) service. The study will consist of two research visits. Each patient will have a history, physical examination, ECG, echocardiogram (cardiac ultrasound), CMR imaging and Holter (ECG worn for ≥24 hours). Blood and urine tests will be done to check for established and new biomarkers. Each patient will be reviewed by a clinician with expertise in inherited cardiac conditions. The goal is to better understand and manage genetic related heart conditions, identifying those at risk and providing appropriate care and surveillance.
REC name
West Midlands - Edgbaston Research Ethics Committee
REC reference
24/WM/0056
Date of REC Opinion
28 Mar 2024
REC opinion
Favourable Opinion