Study to Track Disease Progress and Quality of Life in Children with Cardiomyopathy Caused by MYBPC3 Gene Mutations

What this Trial Is About

Researchers are studying the natural history of cardiomyopathy caused by mutations in the MYBPC3 gene in infants and children up to 18 years old. This observational study aims to understand the disease course, burden of illness, risk factors, and quality of life in patients carrying this genetic mutation. It includes both retrospective chart reviews and prospective follow-up to gather comprehensive information about the condition and its impact. The study includes two groups a retrospective group where existing medical records will be reviewed for patients under 18 years, and a prospective group of 100 patients who will be followed for 5 years. Assessments will take place during regular physician visits, requiring no extra appointments, and mainly involve non-invasive procedures such as questionnaires and an annual blood draw. The study collects data on treatments, procedures, and outcomes related to the MYBPC3 mutation-associated cardiomyopathy. Participants will be involved through regular clinical visits where doctors will perform assessments as part of routine care. Researchers will collect information on cardiac events and measure disease progression over time, focusing on quality of life and clinical outcomes. The prospective group will have ongoing monitoring for 5 years, while retrospective data will provide historical insights. This approach helps characterize the disease and inform future care for affected children.

Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy