Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
- Conditions
- Cardiomyopathy
- Registration Number
- NCT05112237
- Lead Sponsor
- Tenaya Therapeutics
- Brief 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 200
- 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).
- 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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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 5 years for prospective group, n/a for retrospective group
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (29)
Joe DiMaggio Children's Hospital
🇺🇸Hollywood, Florida, United States
Children's Medical Center Dallas
🇺🇸Dallas, Texas, United States
Cleveland Clinic Main Campus
🇺🇸Cleveland, Ohio, United States
Children's Hospital Los Angeles
🇺🇸Los Angeles, California, United States
Columbia University Irving Medical Center
🇺🇸New York, New York, United States
Cohen Children's Medical Center
🇺🇸Lake Success, New York, United States
Montefiore Medical Center, Albert Einstein College of Medicine
🇺🇸Bronx, New York, United States
Mount Sinai
🇺🇸New York, New York, United States
Arkansas Children's Hospital
🇺🇸Little Rock, Arkansas, United States
DDC Clinic Center for Special Needs Children
🇺🇸Middlefield, Ohio, United States
The Hospital for Sick Children
🇨🇦Toronto, Ontario, Canada
Nemours Alfred I. Dupont Hospital for Children
🇺🇸Wilmington, Delaware, United States
St. Louis Children's Hospital
🇺🇸Saint Louis, Missouri, United States
Cardiology Care for Children
🇺🇸Lancaster, Pennsylvania, United States
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
University of Alberta Hospital
🇨🇦Edmonton, Alberta, Canada
University of Pittsburgh Medical Center - Children's Hospital of Pittsburgh
🇺🇸Pittsburgh, Pennsylvania, United States
Texas Children's Hospital
🇺🇸Houston, Texas, United States
Hospital General Universitario Gregorio Marañón
🇪🇸Madrid, Spain
Hospital Alvaro Cunqueiro - Clinico Universitario Vigo
🇪🇸Vigo, Spain
Hospital Sant Joan de Déu Barcelona
🇪🇸Barcelona, Spain
Royal Brompton & Harefield NHS Foundation Trust
🇬🇧London, United Kingdom
NHS Greater Glasgow and Clyde
🇬🇧Glasgow, United Kingdom
Great Ormond Street Hospital for Children NHS Foundation Trust
🇬🇧London, United Kingdom
Cincinnati Children's Hospital Medical Center
🇺🇸Cincinnati, Ohio, United States
University of California Davis Health
🇺🇸Sacramento, California, United States
Rady Children's Hospital - San Diego
🇺🇸San Diego, California, United States
University of Colorado Hospital - Anschutz Medical Campus
🇺🇸Aurora, Colorado, United States
Children's Mercy Hospital Kansas
🇺🇸Kansas City, Missouri, United States