Biomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH)

NCT06446271 | Recruiting

• 1 other identifier: GN23CA296
• Study Type: observational
• Target: 750
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Cardiomyopathies; Genetic Predisposition; Cardiomyopathy, Primary

Keywords

Cardiomyopathy; Genetic; Biomarkers

Outcome Measures

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.

  3 years

Secondary Outcomes (4)

• Biomarker correlation

  3 years

• Prediction of cardiomyopathy development

  3 years with long-term data linkage

• Prediction of cardiomyopathy progression

  3 years with long-term data linkage

• Natural history of genetic cardiomyopathies

  3 years with long-term data linkage

Study Arms (2)

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

Diagnostic Test: Plasma biomarker levels

Gene negative controls (family history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant)

Expected recruitment of 50 patients.

Diagnostic Test: Plasma biomarker levels

Interventions

Plasma biomarker levels DIAGNOSTIC_TEST

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.

Also known as: Electrocardiogram, Echocardiogram, Cardiac magnetic resonance imaging, 24-hour Holter monitor, Questionnaires (Kansas City Cardiomyopathy Questionnaire & General Practice Physical Activity Questionnaire), Urine biomarker levels

Gene negative controls (family history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant); Gene positive participants (personal history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant)

Eligibility Criteria

• Age: 10 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study 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.

You may qualify if:

• 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)

You may not qualify if:

• 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)

Sponsors & Collaborators

• NHS Greater Glasgow and Clyde: lead
• University of Glasgow: collaborator
• Roche Diagnostics GmbH: collaborator

Study Sites (1)

Queen Elizabeth University Hospital

Glasgow, G51 4TF, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Plasma RNA

MeSH Terms

Conditions

Cardiomyopathies; Genetic Predisposition to Disease

Interventions

Electrocardiography; Echocardiography; Electrocardiography, Ambulatory

Condition Hierarchy (Ancestors)

Heart Diseases; Cardiovascular Diseases; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Heart Function Tests; Diagnostic Techniques, Cardiovascular; Diagnostic Techniques and Procedures; Diagnosis; Electrodiagnosis; Cardiac Imaging Techniques; Diagnostic Imaging; Ultrasonography; Monitoring, Ambulatory; Monitoring, Physiologic

Central Study Contacts

Caroline J Coats, MBBS, PhD

CONTACT

0141 451 6121; Caroline.Coats@glasgow.ac.uk

Rachel C Myles, MBBS, PhD

CONTACT

0141 451 6121; Rachel.Myles@glasgow.ac.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 31, 2024
• First Posted: June 6, 2024
• Study Start: June 26, 2024
• Primary Completion (Estimated): March 19, 2027
• Study Completion (Estimated): March 19, 2027
• Last Updated: July 3, 2024

Record last verified: 2024-07

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)