Identification of biomarkers of hypertrophic cardiomyopathy development and progression in Dutch MYBPC3 founder mutation carriers
Recruiting
- Conditions
- hypertrophic cardiomyopathy / thick heart muscle1002859310007510
- Registration Number
- NL-OMON47925
- Lead Sponsor
- niversitair Medisch Centrum Utrecht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 1000
Inclusion Criteria
MYBPC3 founder mutation carrier and 18 years or older
Exclusion Criteria
Cardiac transplant
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Main study determinants/potential predictors<br /><br>- Age (at carrier diagnosis)<br /><br>- Gender<br /><br>- cMyBP-C protein content in exosomes isolated from plasma<br /><br>- creatine/guanidine acetic acid ratio in plasma<br /><br>- delta creatine/guanidine acetic acid ratio in plasma prior/after exercise test<br /><br>- acylcarnitine profile in plasma<br /><br>- delta acylcarnitine profile in plasma prior/after exercise test<br /><br><br /><br>Dependent of the study question of the prospective cohort the endpoints are:<br /><br>1) development of severe HCM<br /><br>2) progression of HCM to severe HCM<br /><br><br /><br>For the case-control study at baseline: a severe HCM phenotype.<br /><br><br /><br>A severe cardiac phenotype will be defined as one or more of the following:<br /><br>septal thickness of >= 20 mm, cardiac arrest due to ventricular arrhythmia, LVEF<br /><br>< 40% or indication for myectomy or cardiac transplant.</p><br>
- Secondary Outcome Measures
Name Time Method <p>not applicable</p><br>