RECRUITINGOBSERVATIONAL
Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
A Prospective and Retrospective Registry and Biomarker Study to Evaluate the Natural History of Pediatric Patients With Cardiomyopathy Due to MYBPC3 Mutations
About This Trial
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.
Who May Be Eligible (Plain English)
Retrospective
Who May Qualify:
- 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).
Who Should NOT Join This Trial:
- 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
Who May Qualify:
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.
Who Should NOT Join This Trial:
- Concurrent participation in an interventional clinical trial unless approved by the sponsor.
- Severe noncardiac disease anticipated to significantly reduce life expectancy.
Always talk to your doctor about whether this trial is right for you.
Original Eligibility Criteria
View original clinical language
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.
Locations (20)
Arkansas Children's Hospital
Little Rock, Arkansas, United States
Children's Hospital Los Angeles
Los Angeles, California, 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
Nemours Alfred I. Dupont Hospital for Children
Wilmington, Delaware, United States
Joe DiMaggio Children's Hospital
Hollywood, Florida, United States
Children's Mercy Hospital Kansas
Kansas City, Missouri, United States
St. Louis Children's Hospital
St Louis, Missouri, United States
Cohen Children's Medical Center
Lake Success, New York, United States
Mount Sinai
New York, New York, United States
Columbia University Irving Medical Center
New York, New York, United States
Montefiore Medical Center, Albert Einstein College of Medicine
The Bronx, New York, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
Cleveland Clinic Main Campus
Cleveland, Ohio, United States
DDC Clinic Center for Special Needs Children
Middlefield, Ohio, United States
Cardiology Care for Children
Lancaster, Pennsylvania, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
University of Pittsburgh Medical Center - Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States
Children's Medical Center Dallas
Dallas, Texas, United States