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

NCT ID: NCT05112237

Last Updated: 2024-11-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-11-01

Study Completion Date

2028-06-30

Brief Summary

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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.

Detailed Description

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Conditions

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Cardiomyopathy

Study Design

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Observational Model Type

OTHER

Study Time Perspective

OTHER

Study Groups

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Retrospective

All patients who meet the eligibility criteria will be eligible for retrospective chart review.

No interventions assigned to this group

Prospective

100 patients meeting the eligibility criteria will be followed for 5 years, in addition to a retrospective chart review. Assessments will be completed as part of a participant's regular schedule of physician visits, no additional visits will be required. Aside from a simple annual blood draw, assessments are non-invasive, including a Quality of Life questionnaire.

No interventions assigned to this group

Eligibility Criteria

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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).


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

* 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


* Concurrent participation in an interventional clinical trial unless approved by the sponsor.
* Severe noncardiac disease anticipated to significantly reduce life expectancy.
Minimum Eligible Age

0 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Tenaya Therapeutics

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Arkansas Children's Hospital

Little Rock, Arkansas, United States

Site Status RECRUITING

Children's Hospital Los Angeles

Los Angeles, California, United States

Site Status RECRUITING

University of California Davis Health

Sacramento, California, United States

Site Status RECRUITING

Rady Children's Hospital - San Diego

San Diego, California, United States

Site Status RECRUITING

University of Colorado Hospital - Anschutz Medical Campus

Aurora, Colorado, United States

Site Status RECRUITING

Nemours Alfred I. Dupont Hospital for Children

Wilmington, Delaware, United States

Site Status RECRUITING

Joe DiMaggio Children's Hospital

Hollywood, Florida, United States

Site Status RECRUITING

Children's Mercy Hospital Kansas

Kansas City, Missouri, United States

Site Status RECRUITING

St. Louis Children's Hospital

St Louis, Missouri, United States

Site Status RECRUITING

Cohen Children's Medical Center

Lake Success, New York, United States

Site Status RECRUITING

Mount Sinai

New York, New York, United States

Site Status RECRUITING

Columbia University Irving Medical Center

New York, New York, United States

Site Status RECRUITING

Montefiore Medical Center, Albert Einstein College of Medicine

The Bronx, New York, United States

Site Status RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status RECRUITING

Cleveland Clinic Main Campus

Cleveland, Ohio, United States

Site Status RECRUITING

DDC Clinic Center for Special Needs Children

Middlefield, Ohio, United States

Site Status RECRUITING

Cardiology Care for Children

Lancaster, Pennsylvania, United States

Site Status RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

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

Pittsburgh, Pennsylvania, United States

Site Status RECRUITING

Children's Medical Center Dallas

Dallas, Texas, United States

Site Status RECRUITING

Texas Children's Hospital

Houston, Texas, United States

Site Status RECRUITING

University of Alberta Hospital

Edmonton, Alberta, Canada

Site Status RECRUITING

The Hospital for Sick Children

Toronto, Ontario, Canada

Site Status RECRUITING

Hospital Sant Joan de Déu Barcelona

Barcelona, , Spain

Site Status RECRUITING

Hospital General Universitario Gregorio Marañón

Madrid, , Spain

Site Status RECRUITING

Hospital Alvaro Cunqueiro - Clinico Universitario Vigo

Vigo, , Spain

Site Status RECRUITING

NHS Greater Glasgow and Clyde

Glasgow, , United Kingdom

Site Status RECRUITING

Royal Brompton & Harefield NHS Foundation Trust

London, , United Kingdom

Site Status RECRUITING

Great Ormond Street Hospital for Children NHS Foundation Trust

London, , United Kingdom

Site Status RECRUITING

Countries

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United States Canada Spain United Kingdom

Central Contacts

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Matthew Pollman, MD

Role: CONTACT

650-209-8092

LaTanya Tomlinson

Role: CONTACT

Other Identifiers

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TN-201-0003

Identifier Type: -

Identifier Source: org_study_id

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