RecruitingNCT06446271

Biomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH)

Biomarkers in SCOTland CardiomyopatHy Registry

Sponsor

NHS Greater Glasgow and Clyde

Enrollment

750 participants

Start Date

Jun 26, 2024

Study Type

OBSERVATIONAL

Conditions

Cardiomyopathies Genetic Predisposition Cardiomyopathy, Primary

Summary

Genetic cardiomyopathy is increasingly recognised and can lead to heart failure, arrhythmia and sudden cardiac death. Some gene positive patients have rapidly progressive disease with high rates of heart failure and cardiac transplantation, while others present with SCD. Other gene positive patients will never develop cardiomyopathy. At present, we cannot distinguish between these groups and rely on expensive and labour-intensive surveillance by electrocardiography, echocardiography and sometimes cardiac magnetic resonance imaging. This study will investigate existing and novel biomarkers (including blood, urine electrocardiographic and imaging) at various stages of disease in patients with a personal or family history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant, which are known to cause cardiomyopathy.

Eligibility

Min Age: 10 Years

Inclusion Criteria3

Male or female ≥10 years of age
Written informed consent / assent
Pathogenic or likely pathogenic variant in a cardiomyopathy gene (TTN, LMNA, MYBPC3, DSP, FLNC) or undergoing predictive genetic testing (if negative these people would be invited to enter the control arm)

Exclusion Criteria5

Unable to consent.
Geographical / social reasons preventing attending study centre
Unable to complete study assessments.
Severe non-cardiac disease expected to reduce life expectancy < 5 years
Current participation in a blinded drug interventional trial (or treatment within 4 weeks)

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Interventions

DIAGNOSTIC_TESTPlasma biomarker levels

This study will investigate existing and novel biomarkers (including blood, urine electrocardiographic and imaging) at various stages of disease in patients with a personal or family history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant, which are known to cause cardiomyopathy. Cardiomyopathy will be defined per European Society of Cardiology cardiomyopathy guidelines and heart failure stage will be defined per American Heart Associate guidelines.