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Natural History Study for Children with MYBPC3 Mutation-Associated Cardiomyopathy

This study is collecting information about children and teenagers (ages 0-18) who have cardiomyopathy (a heart muscle disease) caused by a change (mutation) in the MYBPC3 gene. Researchers want to understand how this condition progresses over time, what factors affect it, and how it impacts quality of life. They will also gather details about treatments, procedures, and outcomes for these patients. This is an observational study, meaning no new treatments are being tested; instead, researchers are learning from existing patient information. The goal is to better understand the disease course and important heart-related events over five years for some participants.

Study design
This is an observational study aiming to enroll 200 participants. It is collecting information from existing patient records (retrospective) and following some participants over time (prospective).
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
For the prospective group, participants will be followed for five years to measure cardiac events and other factors.

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NCT05112237

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

Recruiting
Not specifiedAges 0–18Observational
Tenaya Therapeutics
~200 participants
Updated 2024-11-13 on ClinicalTrials.gov

At a glance

Recruiting sites
29 of 29 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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
Measured over 5 years for prospective group, n/a for retrospective group

Conditions

Cardiomyopathy

Explore related trials

CardiomyopathyDilated CardiomyopathyHypertrophic CardiomyopathyNoncompaction cardiomyopathyRestrictive CardiomyopathyMYBPC3 Gene

Where it's being run

29 sites across 14 states
New York4
California3
Ohio3
Pennsylvania3
Spain3
United Kingdom3
Missouri2
Texas2

Who to contact

Matthew Pollman, MD
[email protected]
650-209-8092
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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).
Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible.
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

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.
Concurrent participation in an interventional clinical trial unless approved by the sponsor.
Severe noncardiac disease anticipated to significantly reduce life expectancy.

What this trial measures

  • 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 measurement5 years for prospective group, n/a for retrospective group