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

Recruiting now

Conditions studied: Cardiomyopathy

In brief

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.

Key facts

Study ID

NCT05112237

Run by

Tenaya Therapeutics

People needed

200

Starts

2021-11-01

Expected to finish

2028-06-01

Last updated by the study team

2024-11-13

Who can join

Age: any, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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).

You may not qualify if…

• 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 it is running

• Arkansas Children's Hospital — Little Rock, Arkansas, United States (enrolling)
• Children's Hospital Los Angeles — Los Angeles, California, United States (enrolling)
• University of California Davis Health — Sacramento, California, United States (enrolling)
• Rady Children's Hospital - San Diego — San Diego, California, United States (enrolling)
• University of Colorado Hospital - Anschutz Medical Campus — Aurora, Colorado, United States (enrolling)
• Nemours Alfred I. Dupont Hospital for Children — Wilmington, Delaware, United States (enrolling)
• Joe DiMaggio Children's Hospital — Hollywood, Florida, United States (enrolling)
• Children's Mercy Hospital Kansas — Kansas City, Missouri, United States (enrolling)
• St. Louis Children's Hospital — St Louis, Missouri, United States (enrolling)
• Cohen Children's Medical Center — Lake Success, New York, United States (enrolling)
• Mount Sinai — New York, New York, United States (enrolling)
• Columbia University Irving Medical Center — New York, New York, United States (enrolling)
• Montefiore Medical Center, Albert Einstein College of Medicine — The Bronx, New York, United States (enrolling)
• Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (enrolling)
• Cleveland Clinic Main Campus — Cleveland, Ohio, United States (enrolling)
• DDC Clinic Center for Special Needs Children — Middlefield, Ohio, United States (enrolling)
• Cardiology Care for Children — Lancaster, Pennsylvania, United States (enrolling)
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (enrolling)
• University of Pittsburgh Medical Center - Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania, United States (enrolling)
• Children's Medical Center Dallas — Dallas, Texas, United States (enrolling)
• Texas Children's Hospital — Houston, Texas, United States (enrolling)
• University of Alberta Hospital — Edmonton, Alberta, Canada (enrolling)
• The Hospital for Sick Children — Toronto, Ontario, Canada (enrolling)
• Hospital Sant Joan de Déu Barcelona — Barcelona, Spain (enrolling)
• Hospital General Universitario Gregorio Marañón — Madrid, Spain (enrolling)

Full record on ClinicalTrials.gov

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