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

a study on Cardiomyopathy

Summary

Eligibility
for people ages 0-18 (full criteria)
Location
at UC Davis
Dates
study started
completion around

Description

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.

Official Title

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

Keywords

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

Eligibility

For people ages 0-18

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.

Locations

  • University of California Davis Health accepting new patients
    Sacramento California 95817 United States
  • Rady Children's Hospital - San Diego accepting new patients
    San Diego California 92123 United States
  • Children's Hospital Los Angeles accepting new patients
    Los Angeles California 90027 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Tenaya Therapeutics
ID
NCT05112237
Study Type
Observational
Participants
Expecting 200 study participants
Last Updated