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NCT Number: NCT05112237

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

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.

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Key information

Conditions

Cardiomyopathy Aortic Stenosis, Subvalvular Aortic Valve Disease Aortic Valve Stenosis Cardiomegaly Cardiomyopathies Cardiomyopathy, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Restrictive Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heart Diseases Heart Valve Diseases Laminopathies

Age range

0 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Alberta Hospital, Edmonton, Alberta, Canada

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

To characterize the disease course and natural history in participants with pathogenic or likely pathogenic MYBPC3 mutations with a specific focus on cardiac events and measurement

Time frame: 5 years for prospective group, n/a for retrospective group

Study contacts

Contact information is provided by the study sponsor or research team.

LaTanya Tomlinson

CONTACT

[email protected]

Matthew Pollman, MD

CONTACT

[email protected]

650-209-8092

Sponsors and collaborators

Lead sponsor

Tenaya Therapeutics

Industry

Registry information

Official study title

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

Acronym: MyCLIMB

Important dates

Study start: 2021
Primary completion: 2028
Study completion: 2028
First posted: Nov 8, 2021
Registry last updated: Nov 13, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting