CardiomyopathiesNCT06446271
Biomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH)
An observational study of Cardiomyopathies and Genetic Predisposition, run by NHS Greater Glasgow and Clyde at 1 site in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Ages 10 years and older
- Conditions the study is for
- Cardiomyopathies, Genetic Predisposition, Cardiomyopathy, Primary
- What is being tested?
- Plasma biomarker levels
- How many people
- 750 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 26 Jun 2024to 19 Mar 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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)
Who cannot join
- 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)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United Kingdom1 site, 1 recruiting
- Recruiting
Queen Elizabeth University Hospital
Glasgow, G51 4TF
Caroline J Coats, MBBS, PhD, Caroline.Coats@glasgow.ac.uk
Fraser C Goldie, MBChB, Fraser.Goldie@glasgow.ac.uk
About this study
Official title: Biomarkers in SCOTland CardiomyopatHy Registry
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.
Read the detailed description
There is a growing appreciation for the role that genetics play in the development of cardiomyopathy, which can lead to heart failure, arrhythmia and sudden cardiac death.
Increased use of genetic testing has identified numerous gene variants, which cause cardiomyopathy with dilated, hypertrophic, restrictive, non-dilated left ventricular and arrhythmogenic right ventricular phenotypes described.
Some gene variants cause a rapidly progressive cardiomyopathy with high rates of heart failure and cardiac transplantation, while others present with SCD, meaning that genotype-specific risk stratification and clinical surveillance is urgently needed. Some gene-positive individuals will never develop cardiomyopathy due to variable penetrance. At present, we cannot distinguish between these patients and therefore rely on expensive and labour-intensive surveillance by electrocardiography, echocardiography and sometimes cardiac magnetic resonance imaging. For every gene-positive affected individual with cardiomyopathy, cascade genetic testing will identify other gene-positive family members who are often asymptomatic and may not yet be affected.
A blood or urine-based biomarker that identifies pre-clinical disease or cardiomyopathy would allow for more efficient monitoring of gene positive people and could replace multiple, repeated electrocardiograms, echocardiograms and cardiac magnetic resonance imaging scans. A biomarker that accurately identifies pre-clinical cardiomyopathy could enable targeted early treatment. A biomarker that predicts future disease progression would be of high clinical value.
- Being tested
- Plasma biomarker levels
- Keywords
- Cardiomyopathy, Genetic, Biomarkers
- Medical subject headings
- Cardiomyopathies, Genetic Predisposition to Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Plasma biomarker levelsDiagnostic test
Also called Electrocardiogram, Echocardiogram, Cardiac magnetic resonance imaging, 24-hour Holter monitor
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.
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Diagnostic Test: Plasma biomarker levels | |
| Gene negative controls (family history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant) | Expected recruitment of 50 patients. Receives: Diagnostic Test: Plasma biomarker levels |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 3 years
Secondary outcomes (4)
Biomarker correlation
Correlation of biomarkers with cardiac imaging measures of inflammation and myocardial fibrosis in genetic cardiomyopathies.
Measured: 3 years
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
Measured: 3 years with long-term data linkage
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.
Measured: 3 years with long-term data linkage
Natural history of genetic cardiomyopathies
Investigate the natural history of genetic cardiomyopathy due to variants in TTN, MYBPC3, LMNA, FLNC and DSP genes.
Measured: 3 years with long-term data linkage
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jun 2024
- Study start26 Jun 2024
- Primary completion19 Mar 2027 (estimated)
- Study completion19 Mar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CardiomyopathiesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 750 participants (estimated)
Sponsor and investigators
- Lead sponsor
- NHS Greater Glasgow and Clyde
- Sponsor type
- University, hospital or other
- Collaborators
- University of Glasgow, Roche Diagnostics GmbH
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06446271
- Sponsor's protocol ID
- GN23CA296
- Status last verified
- Jul 2024
- First submitted
- 31 May 2024
- Last updated
- 3 Jul 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarkers in SCOTland CardiomyopatHy Registry
- ClinicalTrials.gov ID
- NCT06446271
- Acronym / sponsor ID
- GN23CA296
- Keywords
- Cardiomyopathy, Genetic, Biomarkers
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 750 participants (estimated)
- Lead sponsor
- NHS Greater Glasgow and ClydeUniversity, hospital or other
- Collaborators
- University of Glasgow, Roche Diagnostics GmbH
- Study start
- 26 Jun 2024 (actual)
- Primary completion
- 19 Mar 2027 (estimated)
- Study completion
- 19 Mar 2027 (estimated)
- First posted
- 6 Jun 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
There is a growing appreciation for the role that genetics play in the development of cardiomyopathy, which can lead to heart failure, arrhythmia and sudden cardiac death.
Increased use of genetic testing has identified numerous gene variants, which cause cardiomyopathy with dilated, hypertrophic, restrictive, non-dilated left ventricular and arrhythmogenic right ventricular phenotypes described.
Some gene variants cause a rapidly progressive cardiomyopathy with high rates of heart failure and cardiac transplantation, while others present with SCD, meaning that genotype-specific risk stratification and clinical surveillance is urgently needed. Some gene-positive individuals will never develop cardiomyopathy due to variable penetrance. At present, we cannot distinguish between these patients and therefore rely on expensive and labour-intensive surveillance by electrocardiography, echocardiography and sometimes cardiac magnetic resonance imaging. For every gene-positive affected individual with cardiomyopathy, cascade genetic testing will identify other gene-positive family members who are often asymptomatic and may not yet be affected.
A blood or urine-based biomarker that identifies pre-clinical disease or cardiomyopathy would allow for more efficient monitoring of gene positive people and could replace multiple, repeated electrocardiograms, echocardiograms and cardiac magnetic resonance imaging scans. A biomarker that accurately identifies pre-clinical cardiomyopathy could enable targeted early treatment. A biomarker that predicts future disease progression would be of high clinical value.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Gene positive participants (personal history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant) | – | Diagnostic Test: Plasma biomarker levelsPathogenic 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) | – | Diagnostic Test: Plasma biomarker levelsExpected recruitment of 50 patients. |
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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)
Key exclusion criteria (5 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Plasma biomarker levelsAlso: Electrocardiogram, Echocardiogram, Cardiac magnetic resonance imaging, 24-hour Holter monitorThis 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. | Diagnostic test | 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) |
Primary outcome
Biomarker performance
Time frame: 3 years
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.
4 secondary outcomes
Biomarker correlation
Time frame: 3 years
Prediction of cardiomyopathy development
Time frame: 3 years with long-term data linkage
Prediction of cardiomyopathy progression
Time frame: 3 years with long-term data linkage
Natural history of genetic cardiomyopathies
Time frame: 3 years with long-term data linkage
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jul 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cardiomyopathies and Genetic Predisposition, run by NHS Greater Glasgow and Clyde at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Caroline J Coats, MBBS, PhD (0141 451 6121, Caroline.Coats@glasgow.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Biomarker performance (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Jul 2024.