Modeling Mortality in Duchenne Muscular Dystrophy Cardiomyopathy: Identification of Surrogate Outcome Measures for DMD Drug Trials

NCT07674758 | Recruiting

• 2 other identifiers: 240203R01HL167969
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 9

Brief Summary

Dystrophin associated heart dysfunction is a leading cause of death in patients with Duchenne and Becker Muscular dystrophy (DMD/BMD) and Duchenne and Becker muscular dystrophy carriers (MDC); however, the evolution of heart dysfunction is not well-understood. The central objectives of this proposal are to elucidate this evolution of heart dysfunction and identify measures from cardiac MRI images that can predict death or significant heart disease in patients with DMD/BMD/MDC. This study will create a large clinical and cardiac MRI registry of dystrophin associated heart dysfunction, will utilize advanced image analysis techniques, including deep learning neural networks, to comprehensively evaluate every patient, and will create a risk toolkit accessible to clinicians around the world; this proposal has the potential to improve the quality of life in patients with dystrophin associated heart dysfunction by allowing for earlier and more intensive therapy in patients with severe disease and by identifying surrogate outcome measures for use in therapeutic trials.

Conditions

Duchenne Muscular Dystrophy (DMD); Cardiomyopathy; Becker Muscular Dystrophy; Carrier of Duchenne Muscular Dystrophy

Keywords

Duchenne Muscular Dystrophy; cardiomyopathy; machine learning; cardiac MRI; Biomarker; Outcome measures

Outcome Measures

Primary Outcomes (1)

• Mortality

  Time from biomarker of interest to mortality

  baseline to 10 years

Study Arms (1)

Duchenne Muscular Dystrophy, Becker muscular dystrophy, and carriers of muscular dystrophy

Evaluation of surrogate outcome measures of disease in patients with dystrophinopathy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Clinical phenotype of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or muscular dystrophy carrier (MDC) confirmed with muscle biopsy or genotype

You may qualify if:

• Clinical phenotype of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or muscular dystrophy carrier (MDC) confirmed with muscle biopsy or genotype

You may not qualify if:

• Additional genetic or congenital abnormality that may affect cardiovascular function or progression
• Current investigational therapy that may affect cardiovascular function (would preclude ongoing data collection but prior data would still be used)

Sponsors & Collaborators

• Vanderbilt University Medical Center: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Study Sites (9)

UC Davis

Sacramento, California, 95616, United States

RECRUITING

Children's National

Washington D.C., District of Columbia, 20010, United States

RECRUITING

Lurie Children's

Chicago, Illinois, 60611, United States

RECRUITING

Riley Children's Hospital

Indianapolis, Indiana, 46202, United States

RECRUITING

Duke Children's Hospital

Durham, North Carolina, 27705, United States

RECRUITING

Nationwide Children's

Columbus, Ohio, 43205, United States

RECRUITING

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

RECRUITING

Children's Hospital of Richmond at VCU

Richmond, Virginia, 23220, United States

RECRUITING

Seattle Children's

Seattle, Washington, 98105, United States

RECRUITING

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne; Cardiomyopathies

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heart Diseases; Cardiovascular Diseases

Central Study Contacts

Jonathan Soslow, MD, MSCI

CONTACT

615-322-7447; DMDMachineLearning@vumc.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: June 24, 2026
• First Posted: June 30, 2026
• Study Start: January 6, 2025
• Primary Completion (Estimated): February 1, 2029
• Study Completion (Estimated): February 1, 2029
• Last Updated: July 28, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will share
• Time Frame: Data will be available at the conclusion of the study
• Access Criteria: Access will be determined by C-PATH

Locations

US (9)