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NCT05112237Recruiting

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

Tenaya Therapeutics

Start Date

11/1/2021

Completion Date

6/1/2028

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.

Eligibility Criteria

Age Range: No minimum to 18 years

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.

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Conditions

Cardiomyopathy

Locations

Arkansas Children's Hospital

Little Rock, Arkansas 72202

United States

Children's Hospital Los Angeles

Los Angeles, California 90027

United States

University of California Davis Health

Sacramento, California 95817

United States

Rady Children's Hospital - San Diego

San Diego, California 92123

United States

University of Colorado Hospital - Anschutz Medical Campus

Aurora, Colorado 80045

United States

Nemours Alfred I. Dupont Hospital for Children

Wilmington, Delaware 19803

United States

Joe DiMaggio Children's Hospital

Hollywood, Florida 33021

United States

Children's Mercy Hospital Kansas

Kansas City, Missouri 64108

United States

St. Louis Children's Hospital

St Louis, Missouri 63110

United States

Cohen Children's Medical Center

Lake Success, New York 11042

United States

Mount Sinai

New York, New York 10029

United States

Columbia University Irving Medical Center

New York, New York 10032

United States

Montefiore Medical Center, Albert Einstein College of Medicine

The Bronx, New York 10467

United States

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio 45229

United States

Cleveland Clinic Main Campus

Cleveland, Ohio 44195

United States

DDC Clinic Center for Special Needs Children

Middlefield, Ohio 44062

United States

Cardiology Care for Children

Lancaster, Pennsylvania 17601

United States

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania 19104

United States

University of Pittsburgh Medical Center - Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania 15224

United States

Children's Medical Center Dallas

Dallas, Texas 75207

United States

Texas Children's Hospital

Houston, Texas 77030

United States

University of Alberta Hospital

Edmonton, Alberta T6G 2B7

Canada

The Hospital for Sick Children

Toronto, Ontario

Canada

Hospital Sant Joan de Déu Barcelona

Barcelona, 8950

Spain

Hospital General Universitario Gregorio Marañón

Madrid, 28003

Spain

Hospital Alvaro Cunqueiro - Clinico Universitario Vigo

Vigo, 36312

Spain

NHS Greater Glasgow and Clyde

Glasgow, G12 0XH

United Kingdom

Royal Brompton & Harefield NHS Foundation Trust

London, SW3 6NP

United Kingdom

Great Ormond Street Hospital for Children NHS Foundation Trust

London, WC1N 3JH

United Kingdom