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

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05112237

Acronym

MyCLIMB

Enrollment

200

Registered

2021-11-08

Start date

2021-11-01

Completion date

2028-06-01

Last updated

2026-09-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cardiomyopathy

Keywords

Genetic Cardiomyopathy, Pediatric, MYBPC3, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy, Restrictive Cardiomyopathy, Non-Compaction cardiomyopathy

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.

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

0 Years to 18 Years

Healthy volunteers

Inclusion 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.

Design outcomes

Primary

Measure	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

Countries

Canada, Spain, United Kingdom, United States

Outcome results