Study of Biomarkers in People With Genetic Variants Linked to Cardiomyopathy to Improve Disease Monitoring and Prediction

What this Trial Is About

Genetic cardiomyopathy is a condition linked to various gene variants that can lead to heart failure, irregular heart rhythms, and sudden cardiac death. This research focuses on patients who have a personal or family history of specific gene variants TTN, MYBPC3, LMNA, FLNC, or DSP known to cause different forms of cardiomyopathy. The study aims to understand how existing and new biomarkers can identify and predict disease progression in these gene-positive individuals, addressing the current challenge of distinguishing patients who will develop severe symptoms from those who may remain unaffected. The study will observe gene-positive participants and control participants with a family history but negative genetic testing. Researchers will collect and analyze biomarkers from blood and urine, as well as electrocardiographic and imaging data, following established cardiomyopathy and heart failure guidelines. The main focus is on how well these biomarkers perform over three years to detect pre-clinical disease and predict cardiomyopathy progression. The study plans to recruit around 750 participants across different gene variant groups. Participants will undergo regular assessments involving biomarker sampling and imaging over a three-year period, with long-term data linkage to track disease development and progression. Researchers will monitor biomarker levels and correlate them with clinical outcomes to evaluate their usefulness in improving disease surveillance. The study includes genetic testing, clinical evaluations, and will assess natural history aspects of genetic cardiomyopathies. This will help explore less burdensome monitoring alternatives to frequent heart scans and tests. The trial is expected to conclude by March 2027.

Biomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH)