Trials Sponsors Conditions Drugs Pricing

Conditions

Cardiomyopathies Cardiomyopathy, Primary Genetic Predisposition

Keywords

CardiomyopathyGeneticBiomarkers

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 levelsDiagnostic 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)

Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.

Eligibility Criteria

Age10 Years+

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-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

Sponsors & Collaborators

NHS Greater Glasgow and Clyde
Otherlead
Roche Diagnostics GmbH
Industrycollaborator
University of Glasgow

Study Sites (1)

Queen Elizabeth University Hospital

Glasgow, G51 4TF, United Kingdom

RECRUITING

Caroline J Coats, MBBS, PhDCONTACTCaroline.Coats@glasgow.ac.uk

Fraser C Goldie, MBChBCONTACTFraser.Goldie@glasgow.ac.uk

Caroline J Coats, MBBS, PhDPRINCIPAL INVESTIGATOR

Biospecimen

Retention: SAMPLES WITH DNA

Plasma RNA

MeSH Terms

Conditions

CardiomyopathiesGenetic Predisposition to Disease

Interventions

ElectrocardiographyEchocardiographyElectrocardiography, Ambulatory

Condition Hierarchy (Ancestors)

Heart DiseasesCardiovascular DiseasesDisease SusceptibilityDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Heart Function Tests

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

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

Actual (reported)

Primary Completion

March 19, 2027

Estimated

Planned date reported by the registry; this milestone is not confirmed as achieved.

Biomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH)

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (4)

Study Arms (2)

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

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

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Interventions

Condition Hierarchy (Ancestors)

Intervention Hierarchy (Ancestors)

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (4)

Study Arms (2)

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

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

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Interventions

Condition Hierarchy (Ancestors)

Intervention Hierarchy (Ancestors)

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations