Biomarkers in SCOTland CardiomyopatHy Registry

Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 10
Healthy Volunteers: f
View:

• 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)

Locations
Other Locations
United Kingdom
Queen Elizabeth University Hospital
RECRUITING
Glasgow
Contact Information
Primary
Caroline J Coats, MBBS, PhD
Caroline.Coats@glasgow.ac.uk
0141 451 6121
Backup
Rachel C Myles, MBBS, PhD
Rachel.Myles@glasgow.ac.uk
0141 451 6121
Time Frame
Start Date: 2024-06-26
Estimated Completion Date: 2027-03-19
Participants
Target number of participants: 750
Treatments
Gene positive participants (personal history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant)
Pathogenic and likely pathogenic variants defined by American College of Medical Genetics guidelines.~Expected recruitment of: 300 TTN, 300 MYBPC3, up to 50 LMNA, up to 50 FLNC and up to 50 DSP
Gene negative controls (family history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant)
Expected recruitment of 50 patients.
Sponsors
Collaborators: Roche Diagnostics GmbH, University of Glasgow
Leads: NHS Greater Glasgow and Clyde

This content was sourced from clinicaltrials.gov