A Prospective and Retrospective Registry and Biomarker Study to Evaluate the Natural History of Pediatric Patients With Cardiomyopathy Due to MYBPC3 Mutations
Tenaya Therapeutics
Summary
The objective of this study is to collect information on patients with cardiomyopathy (CM) due to mutations in the MYBPC3 gene, to evaluate their disease course, burden of illness, risk factors for this disease, and the quality of life (QoL). This study will also collect information on treatments, procedures and outcome in infants and children up to 18 yrs who have this mutation.
Eligibility
- Age range
- 0–18 years
- Sex
- All
- Healthy volunteers
- No
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 homozy…
Locations (29)
- Arkansas Children's HospitalLittle Rock, Arkansas
- Children's Hospital Los AngelesLos Angeles, California
- University of California Davis HealthSacramento, California
- Rady Children's Hospital - San DiegoSan Diego, California
- University of Colorado Hospital - Anschutz Medical CampusAurora, Colorado
- Nemours Alfred I. Dupont Hospital for ChildrenWilmington, Delaware