Biomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age10+
SponsorNHS Greater Glasgow and Clyde
About this trial
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 criteria
This trial does not accept healthy volunteersQualifiers
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)
Disqualifiers
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
Trial population
People with a personal or family history of TTN, LMNA, MYBPC3, DSP, or FLNC gene variant who have been referred to the West of Scotland Inherited Cardiac Conditions Service clinic.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Plasma biomarker levels
Diagnostic testThis 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.
Treatment groups
750 Participants
are divided into 2 treatment groupsGroup A: Gene positive participants (personal history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant)1 intervention
Group B: Gene negative controls (family history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant)1 intervention
Trial outcomes
Primary outcomes
1
Biomarker performance
Diagnostic performance of existing and novel biomarkers across the spectrum of disease in patients with pathogenic/ likely pathogenic TTN, MYBPC3, LMNA, FLNC or DSP gene variants.
Time frame
3 yearsSecondary outcomes
1
Biomarker correlation
Correlation of biomarkers with cardiac imaging measures of inflammation and myocardial fibrosis in genetic cardiomyopathies.
Time frame
3 years2
Prediction of cardiomyopathy development
Investigation of biomarkers that can predict which patients (who are gene positive without cardiomyopathy) will develop cardiomyopathy, heart failure, arrhythmia, or die
Time frame
3 years with long-term data linkage3
Prediction of cardiomyopathy progression
Investigation of biomarkers that can predict which patients (who are gene positive with cardiomyopathy) will have progressive cardiomyopathy, heart failure, arrhythmia, or die.
Time frame
3 years with long-term data linkage4
Natural history of genetic cardiomyopathies
Investigate the natural history of genetic cardiomyopathy due to variants in TTN, MYBPC3, LMNA, FLNC and DSP genes.
Time frame
3 years with long-term data linkageSponsors and contacts
Click on the lead sponsor to view all of their trials.
NHS Greater Glasgow and Clyde
Lead sponsor
University of Glasgow
Collaborator
Roche Diagnostics GmbH
Collaborator
Source ClinicalTrials.gov