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Observing the progression of cardiomyopathy in children with MYBPC3 mutations

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

Observational Tenaya Therapeutics · NCT05112237

This study looks at how cardiomyopathy affects children with MYBPC3 gene mutations to see how the disease progresses and impacts their lives.

Quick facts

Study typeObservational
Enrollment200 (estimated)
Ages0 Years to 18 Years
SexAll
SponsorTenaya Therapeutics Industry-sponsored
Locations29 sites (Little Rock, Arkansas and 28 other locations)
Trial IDNCT05112237 on ClinicalTrials.gov

What this trial studies

This observational study aims to gather data on pediatric patients with cardiomyopathy caused by MYBPC3 gene mutations. It will evaluate the disease course, burden of illness, risk factors, and quality of life in children under 18 years old. The study will also collect information on treatments and outcomes for these patients, providing valuable insights into this genetic condition.

Who should consider this trial

Good fit: Ideal candidates include infants and children under 18 years with documented MYBPC3 mutations and a diagnosis of cardiomyopathy.

Not a fit: Patients who have received a cardiac transplant or died more than 10 years prior to the study initiation may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of MYBPC3 mutation-associated cardiomyopathy, leading to improved management and treatment strategies for affected children.

How similar studies have performed: While this study focuses on a specific genetic mutation, similar observational studies have shown success in understanding genetic cardiomyopathies and their impacts on patient outcomes.

Eligibility criteria

Show full inclusion / 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.

Where this trial is running

Little Rock, Arkansas and 28 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions CardiomyopathyGenetic CardiomyopathyPediatricMYBPC3Hypertrophic CardiomyopathyDilated CardiomyopathyRestrictive CardiomyopathyNon-Compaction cardiomyopathy
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.