RecruitingCardiomyopathy

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

Eligible age

0–18 yrs

Accepts

All genders

Locations

10 states

Healthy volunteers

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About this study

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.

Sponsor: Tenaya Therapeutics

You may qualify if…

✓ 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).
✓ 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.

You may not qualify if…

✕ 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
✕ Concurrent participation in an interventional clinical trial unless approved by the sponsor.
✕ Severe noncardiac disease anticipated to significantly reduce life expectancy.