Ignite Creation Date:
2024-06-16 @ 11:50 AM
Last Modification Date:
2024-10-26 @ 3:31 PM
Study NCT ID:
NCT06446271
Status:
RECRUITING
Last Update Posted:
2024-07-03
First Post:
2024-05-31
Brief Title:
Biomarkers in SCOTland CardiomyopatHy Registry Bio-SCOTCH
Sponsor:
NHS Greater Glasgow and Clyde
Organization:
NHS Greater Glasgow and Clyde
Study Overview
Official Title:
Biomarkers in SCOTland CardiomyopatHy Registry
Status:
RECRUITING
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None