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

Study Overview
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Brief Summary
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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.

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

Conditions
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Cardiomyopathy

Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 0 Years
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Retrospective<br>All patients who meet the eligibility criteria will be eligible for retrospective chart review. | |
| Prospective<br>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. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 |  | 5 years for prospective group, n/a for retrospective group | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Genetic Cardiomyopathy, Pediatric, MYBPC3, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy, Restrictive Cardiomyopathy, Non-Compaction cardiomyopathy