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

Last updated: November 11, 2024
Sponsor: Tenaya Therapeutics
Overall Status: Active - Recruiting

Phase

N/A

Condition

Cardiomyopathy

Circulation Disorders

Treatment

N/A

Clinical Study ID

NCT05112237
TN-201-0003
  • Ages < 18
  • All Genders

Study 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

Inclusion

Retrospective

Inclusion Criteria:

  • Data is available for patient <18 years of age. Patients must be <18 years of age atenrollment or at time of death.

  • Documented results of genotyping showing the presence of at least one pathogenic orlikely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compoundheterozygous).

Exclusion

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-yearperiod.

Prospective

Inclusion Criteria:

For Infants:

  • Infants who are homozygous or compound heterozygous for the known pathogenictruncating 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 likelypathogenic 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 thesponsor.

  • Severe noncardiac disease anticipated to significantly reduce life expectancy.

Study Design

Total Participants: 200
Study Start date:
November 01, 2021
Estimated Completion Date:
June 30, 2028

Connect with a study center

  • University of Alberta Hospital

    Edmonton, Alberta T6G 2B7
    Canada

    Active - Recruiting

  • The Hospital for Sick Children

    Toronto, Ontario
    Canada

    Active - Recruiting

  • Hospital Sant Joan de Déu Barcelona

    Barcelona, 8950
    Spain

    Active - Recruiting

  • Hospital General Universitario Gregorio Marañón

    Madrid, 28003
    Spain

    Active - Recruiting

  • Hospital Alvaro Cunqueiro - Clinico Universitario Vigo

    Vigo, 36312
    Spain

    Active - Recruiting

  • NHS Greater Glasgow and Clyde

    Glasgow, G12 0XH
    United Kingdom

    Active - Recruiting

  • Great Ormond Street Hospital for Children NHS Foundation Trust

    London, WC1N 3JH
    United Kingdom

    Active - Recruiting

  • Royal Brompton & Harefield NHS Foundation Trust

    London, SW3 6NP
    United Kingdom

    Active - Recruiting

  • Arkansas Children's Hospital

    Little Rock, Arkansas 72202
    United States

    Active - Recruiting

  • Children's Hospital Los Angeles

    Los Angeles, California 90027
    United States

    Active - Recruiting

  • University of California Davis Health

    Sacramento, California 95817
    United States

    Active - Recruiting

  • Rady Children's Hospital - San Diego

    San Diego, California 92123
    United States

    Active - Recruiting

  • University of Colorado Hospital - Anschutz Medical Campus

    Aurora, Colorado 80045
    United States

    Active - Recruiting

  • Nemours Alfred I. Dupont Hospital for Children

    Wilmington, Delaware 19803
    United States

    Active - Recruiting

  • Joe DiMaggio Children's Hospital

    Hollywood, Florida 33021
    United States

    Active - Recruiting

  • Children's Mercy Hospital Kansas

    Kansas City, Missouri 64108
    United States

    Active - Recruiting

  • St. Louis Children's Hospital

    Saint Louis, Missouri 63110
    United States

    Active - Recruiting

  • Montefiore Medical Center, Albert Einstein College of Medicine

    Bronx, New York 10467
    United States

    Active - Recruiting

  • Cohen Children's Medical Center

    Lake Success, New York 11042
    United States

    Active - Recruiting

  • Columbia University Irving Medical Center

    New York, New York 10032
    United States

    Active - Recruiting

  • Mount Sinai

    New York, New York 10029
    United States

    Active - Recruiting

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, Ohio 45229
    United States

    Active - Recruiting

  • Cleveland Clinic Main Campus

    Cleveland, Ohio 44195
    United States

    Active - Recruiting

  • DDC Clinic Center for Special Needs Children

    Middlefield, Ohio 44062
    United States

    Active - Recruiting

  • Cardiology Care for Children

    Lancaster, Pennsylvania 17601
    United States

    Active - Recruiting

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania 19104
    United States

    Active - Recruiting

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

    Pittsburgh, Pennsylvania 15224
    United States

    Active - Recruiting

  • Children's Medical Center Dallas

    Dallas, Texas 75207
    United States

    Active - Recruiting

  • Texas Children's Hospital

    Houston, Texas 77030
    United States

    Active - Recruiting

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