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

Description

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.

Conditions

Cardiomyopathy

Study Overview

Study Details

Study 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.

A Prospective and Retrospective Registry and Biomarker Study to Evaluate the Natural History of Pediatric Patients With Cardiomyopathy Due to MYBPC3 Mutations

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

Condition
Cardiomyopathy
Intervention / Treatment

-

Contacts and Locations

Little Rock

Arkansas Children's Hospital, Little Rock, Arkansas, United States, 72202

Los Angeles

Children's Hospital Los Angeles, Los Angeles, California, United States, 90027

Sacramento

University of California Davis Health, Sacramento, California, United States, 95817

San Diego

Rady Children's Hospital - San Diego, San Diego, California, United States, 92123

Aurora

University of Colorado Hospital - Anschutz Medical Campus, Aurora, Colorado, United States, 80045

Wilmington

Nemours Alfred I. Dupont Hospital for Children, Wilmington, Delaware, United States, 19803

Hollywood

Joe DiMaggio Children's Hospital, Hollywood, Florida, United States, 33021

Kansas City

Children's Mercy Hospital Kansas, Kansas City, Missouri, United States, 64108

Saint Louis

St. Louis Children's Hospital, Saint Louis, Missouri, United States, 63110

Bronx

Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York, United States, 10467

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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).
  • * 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.

Ages Eligible for Study

0 Years to 18 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Tenaya Therapeutics,

Study Record Dates

2028-06