Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
MyCLIMB
A Prospective and Retrospective Registry and Biomarker Study to Evaluate the Natural History of Pediatric Patients With Cardiomyopathy Due to MYBPC3 Mutations
1 other identifier
observational
200
4 countries
29
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Nov 2021
Longer than P75 for all trials
29 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
October 27, 2021
CompletedStudy Start
First participant enrolled
November 1, 2021
CompletedFirst Posted
Study publicly available on registry
November 8, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 1, 2028
ExpectedStudy Completion
Last participant's last visit for all outcomes
June 1, 2028
September 2, 2026
September 1, 2026
6.6 years
October 27, 2021
September 1, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
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
5 years for prospective group, n/a for retrospective group
Study Arms (2)
Retrospective
All patients who meet the eligibility criteria will be eligible for retrospective chart review.
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.
Eligibility Criteria
Patients under the age of 18 years (at enrollment) with cardiomyopathy (CM) and pathogenic or likely pathogenic MYBPC3 genetic mutation
You may qualify if:
- 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).
You may not qualify if:
- 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
- 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.
- Concurrent participation in an interventional clinical trial unless approved by the sponsor.
- Severe noncardiac disease anticipated to significantly reduce life expectancy.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (29)
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
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- OTHER
- Time Perspective
- OTHER
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 27, 2021
First Posted
November 8, 2021
Study Start
November 1, 2021
Primary Completion (Estimated)
June 1, 2028
Study Completion (Estimated)
June 1, 2028
Last Updated
September 2, 2026
Record last verified: 2026-09
Data Sharing
- IPD Sharing
- Will not share