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Clinical Trials in the USA / NCT05112237
Active, not recruiting Observational

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

NCT05112237 · tracked via the Priya Life Science USA tracker
Sponsor
Tenaya Therapeutics
Phase
Observational
Started
2021-11-01
Last updated
2026-09-02

Condition(s) studied

Cardiomyopathy

Study 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.

Eligibility

Sex
ALL
Min age
0 Years
Max age
18 Years
Healthy volunteers
No
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.

Primary outcome measure(s)

Trial sites (29)

FacilityCityRegionStatus
Arkansas Children's Hospital Little Rock Arkansas
Children's Hospital Los Angeles Los Angeles California
University of California Davis Health Sacramento California
Rady Children's Hospital - San Diego San Diego California
University of Colorado Hospital - Anschutz Medical Campus Aurora Colorado
Nemours Alfred I. Dupont Hospital for Children Wilmington Delaware
Joe DiMaggio Children's Hospital Hollywood Florida
Children's Mercy Hospital Kansas Kansas City Missouri
St. Louis Children's Hospital St Louis Missouri
Cohen Children's Medical Center Lake Success New York
Mount Sinai New York New York
Columbia University Irving Medical Center New York New York
Montefiore Medical Center, Albert Einstein College of Medicine The Bronx New York
Cincinnati Children's Hospital Medical Center Cincinnati Ohio
Cleveland Clinic Main Campus Cleveland Ohio
DDC Clinic Center for Special Needs Children Middlefield Ohio
Cardiology Care for Children Lancaster Pennsylvania
Children's Hospital of Philadelphia Philadelphia Pennsylvania
University of Pittsburgh Medical Center - Children's Hospital of Pittsburgh Pittsburgh Pennsylvania
Children's Medical Center Dallas Dallas Texas
Texas Children's Hospital Houston Texas
University of Alberta Hospital Edmonton Alberta
The Hospital for Sick Children Toronto Ontario
Hospital Sant Joan de Déu Barcelona Barcelona Spain
Hospital General Universitario Gregorio Marañón Madrid Spain
Hospital Alvaro Cunqueiro - Clinico Universitario Vigo Vigo Spain
NHS Greater Glasgow and Clyde Glasgow United Kingdom
Royal Brompton & Harefield NHS Foundation Trust London United Kingdom
Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom

More Tenaya Therapeutics trials in the USA

Other trials for the same condition

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT05112237 on ClinicalTrials.gov ↗ ← All trials in the USA