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This study examines the natural history of disease in pediatric patients with cardiomyopathy (heart muscle disease) associated with a MYBPC3 gene mutation. It enrolls patients under 18 with at least one confirmed pathogenic MYBPC3 mutation, both retrospectively and prospectively. It is conducted as a study without a phase designation and is currently recruiting participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Retrospective 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.