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

Tenaya Therapeutics

Status: Enrolling

Conditions: Cardiomyopathy

Study type: Observational

Funder types: Industry

Identifiers

NCT05112237

TN-201-0003

Details and patient eligibility

About

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.

Enrollment: 200 estimated patients

Sex: All

Ages: Under 18 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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.

Trial design

200 participants in 2 patient groups

Retrospective

Description:

All patients who meet the eligibility criteria will be eligible for retrospective chart review.

Prospective

Description:

100 patients meeting the eligibility criteria will be followed for 5 years, in addition to a retrospective chart review. Assessments will be completed as part of a participant's regular schedule of physician visits, no additional visits will be required. Aside from a simple annual blood draw, assessments are non-invasive, including a Quality of Life questionnaire.