Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Cardiomyopathy. Basic parameters: 0 years — 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Canada, Spain, United Kingdom
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A Prospective and Retrospective Registry and Biomarker Study to Evaluate the Natural History of Pediatric Patients With Cardiomyopathy Due to MYBPC3 Mutations
Overview
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.
Primary outcome 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 measurement [Time frame: 5 years for prospective group, n/a for retrospective group]
Eligibility 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Other
Study locations
United States · 21 centers
- Arkansas Children's Hospital — Little Rock
- Children's Hospital Los Angeles — Los Angeles
- University of California Davis Health — Sacramento
- Rady Children's Hospital - San Diego — San Diego
- University of Colorado Hospital - Anschutz Medical Campus — Aurora
- Nemours Alfred I. Dupont Hospital for Children — Wilmington
- Joe DiMaggio Children's Hospital — Hollywood
- Children's Mercy Hospital Kansas — Kansas City
- … and 13 more centers
Spain · 3 centers
- Hospital Sant Joan de Déu Barcelona — Barcelona
- Hospital General Universitario Gregorio Marañón — Madrid
- Hospital Alvaro Cunqueiro - Clinico Universitario Vigo — Vigo
United Kingdom · 3 centers
- NHS Greater Glasgow and Clyde — Glasgow
- Royal Brompton & Harefield NHS Foundation Trust — London
- Great Ormond Street Hospital for Children NHS Foundation Trust — London
Canada · 2 centers
- University of Alberta Hospital — Edmonton
- The Hospital for Sick Children — Toronto
Identifiers
NCT: NCT05112237 · TN-201-0003