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

Launched by TENAYA THERAPEUTICS · Oct 27, 2021

Keywords

ClinConnect Summary

This clinical trial is focused on understanding a specific heart condition called cardiomyopathy, which can occur in children who have a mutation in the MYBPC3 gene. The goal of the study is to gather information about how this condition affects patients over time, including their symptoms, treatments, and overall quality of life. Researchers want to learn more about the challenges these young patients face and how best to support them. The study is currently looking for participants, including infants and children up to 18 years old, who have been diagnosed with cardiomyopathy and have a confirmed MYBPC3 mutation.

To be eligible for the study, participants must be under 18 years old and have documented evidence of the MYBPC3 mutation. This can include infants who have specific types of mutations. However, the study will not accept participants who have had a heart transplant or who have severe other health issues that could affect their life expectancy. Those who join the study can expect to contribute valuable information that may help improve the understanding and treatment of this condition for future patients.

Gender

ALL

Eligibility criteria

• • 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.