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

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.

Study Overview

• Status: Recruiting
• Conditions: Cardiomyopathy

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: LaTanya Tomlinson; Email: clinical.trials@tenayathera.com
• Study Contact Backup: Name: Matthew Pollman, MD; Phone Number: 650-209-8092; Email: mpollman@tenayathera.com

Study Locations

• Canada
  • Alberta
    • Edmonton, Alberta, Canada, T6G 2B7
      • Recruiting
      • University of Alberta Hospital
  • Ontario
    • Toronto, Ontario, Canada
      • Recruiting
      • The Hospital for Sick Children
• Spain
  • Barcelona, Spain, 8950
    • Recruiting
    • Hospital Sant Joan de Deu Barcelona
  • Madrid, Spain, 28003
    • Recruiting
    • Hospital General Universitario Gregorio Marañon
  • Vigo, Spain, 36312
    • Recruiting
    • Hospital Alvaro Cunqueiro - Clinico Universitario Vigo
• United Kingdom
  • Glasgow, United Kingdom, G12 0XH
    • Recruiting
    • NHS Greater Glasgow and Clyde
  • London, United Kingdom, WC1N 3JH
    • Recruiting
    • Great Ormond Street Hospital For Children NHS Foundation Trust
  • London, United Kingdom, SW3 6NP
    • Recruiting
    • Royal Brompton & Harefield NHS Foundation Trust
• United States
  • Arkansas
    • Little Rock, Arkansas, United States, 72202
      • Recruiting
      • Arkansas Children's Hospital
  • California
    • Los Angeles, California, United States, 90027
      • Recruiting
      • Children's Hospital Los Angeles
    • Sacramento, California, United States, 95817
      • Recruiting
      • University of California Davis Health
    • San Diego, California, United States, 92123
      • Recruiting
      • Rady Children's Hospital - San Diego
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Recruiting
      • University of Colorado Hospital - Anschutz Medical Campus
  • Delaware
    • Wilmington, Delaware, United States, 19803
      • Recruiting
      • Nemours Alfred I. Dupont Hospital for Children
  • Florida
    • Hollywood, Florida, United States, 33021
      • Recruiting
      • Joe DiMaggio Children's Hospital
  • Missouri
    • Kansas City, Missouri, United States, 64108
      • Recruiting
      • Children's Mercy Hospital Kansas
    • Saint Louis, Missouri, United States, 63110
      • Recruiting
      • St. Louis Children's Hospital
  • New York
    • Bronx, New York, United States, 10467
      • Recruiting
      • Montefiore Medical Center, Albert Einstein College of Medicine
    • Lake Success, New York, United States, 11042
      • Recruiting
      • Cohen Children's Medical Center
    • New York, New York, United States, 10032
      • Recruiting
      • Columbia University Irving Medical Center
    • New York, New York, United States, 10029
      • Recruiting
      • Mount Sinai
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Recruiting
      • Cincinnati Children's Hospital Medical Center
    • Cleveland, Ohio, United States, 44195
      • Recruiting
      • Cleveland Clinic Main Campus
    • Middlefield, Ohio, United States, 44062
      • Recruiting
      • DDC Clinic Center for Special Needs Children
  • Pennsylvania
    • Lancaster, Pennsylvania, United States, 17601
      • Recruiting
      • Cardiology Care for Children
    • Philadelphia, Pennsylvania, United States, 19104
      • Recruiting
      • Children's Hospital of Philadelphia
    • Pittsburgh, Pennsylvania, United States, 15224
      • Recruiting
      • University of Pittsburgh Medical Center - Children's Hospital of Pittsburgh
  • Texas
    • Dallas, Texas, United States, 75207
      • Recruiting
      • Children's Medical Center Dallas
    • Houston, Texas, United States, 77030
      • Recruiting
      • Texas Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients under the age of 18 years (at enrollment) with cardiomyopathy (CM) and pathogenic or likely pathogenic MYBPC3 genetic mutation

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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

Collaborators and Investigators

• Sponsor: Tenaya Therapeutics

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2021
• Primary Completion (Estimated): June 1, 2028
• Study Completion (Estimated): June 1, 2028

Study Registration Dates

• First Submitted: October 27, 2021
• First Submitted That Met QC Criteria: October 27, 2021
• First Posted (Actual): November 8, 2021

Study Record Updates

• Last Update Posted (Estimated): November 13, 2024
• Last Update Submitted That Met QC Criteria: November 11, 2024
• Last Verified: November 1, 2024

More Information

Terms related to this study

• Keywords: Pediatric; Dilated Cardiomyopathy; Restrictive Cardiomyopathy; Genetic Cardiomyopathy; MYBPC3; Hypertrophic Cardiomyopathy (HCM); Non-Compaction cardiomyopathy
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Heart Diseases; Cardiomyopathies
• Other Study ID Numbers: TN-201-0003

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No