A Prospective and Retrospective Registry and Biomarker Study to Evaluate the Natural History of Pediatric Patients With Cardiomyopathy Due to MYBPC3 Mutations

Tenaya Therapeutics29 sites in 4 countries200 target enrollmentNovember 1, 2021

ConditionsCardiomyopathy

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: Cardiomyopathy
Sponsor: Tenaya Therapeutics
Enrollment: 200
Locations: 29
Primary Endpoint: To characterize the disease course and natural history in participants with pathogenic or likely pathogenic MYBPC3 mutations with a specific focus on cardiac events and measurement
Status: Recruiting
Last Updated: last year

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

Overview

Brief 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.

Registry

clinicaltrials.gov

Start Date

November 1, 2021

End Date

June 2028

Last Updated

last year

Study Type

Observational

Sex

All

Investigators

Sponsor

Tenaya Therapeutics

Responsible Party

Sponsor

Eligibility Criteria

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:

Outcomes

Primary Outcomes

To characterize the disease course and natural history in participants with pathogenic or likely pathogenic MYBPC3 mutations with a specific focus on cardiac events and measurement

Time Frame: 5 years for prospective group, n/a for retrospective group