Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
Recruitment Status: Recruiting
Start Date: November 01, 2021
End Date: June 01, 2028
LaTanya Tomlinson
Inclusion Criteria:
- Data is available for patient <18 years of age. Patients must be <18 years of age at enrollment or at time of death.
- Documented results of genotyping showing the presence of at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compound heterozygous).
Exclusion Criteria:
- Patient received cardiac transplantation or died >10 years before study initiation. For homozygous or biallelic infants, data may be collected beyond this 10-year period. Prospective
Inclusion Criteria: For Infants:
- Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible. For all other participants:
- Age <18 at entry into the prospective study.
- Documented results of genotyping identifying at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compound heterozygous).
- Diagnosis of Cardiomyopathy (CM): HCM, DCM, RCM, mixed CM, or LVNC.
Exclusion Criteria:
- Concurrent participation in an interventional clinical trial unless approved by the sponsor.
- Severe noncardiac disease anticipated to significantly reduce life expectancy.
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Conditions:
- Cardiomyopathies