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

June 24, 2026 updated by: Jonathan Soslow, Vanderbilt University Medical Center

Evaluating Cardiac Function in Patients With Duchenne Muscular Dystrophy

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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Duchenne and Becker muscular dystrophy (DMD/BMD) are devastating diseases with no cure resulting in loss of ambulation, respiratory failure, cardiomyopathy, and premature death. Dystrophin associated cardiomyopathy (defined here as CM) is the leading cause of death in DMD/BMD, and an under-studied concern in DMD and BMD mutation carriers (MDC). CM progression is variable and poorly described in the current era. There are no blood or imaging biomarkers that can predict the pace of progression or the risk of early mortality. More importantly, there are no established cardiac outcome measures. Novel, targeted therapeutics are necessary to treat CM, but these significant knowledge gaps make clinical trials challenging. A better understanding of DMD/BMD/MDC cardiovascular disease progression and the identification of surrogate outcome measures are critical for the field to advance. To address these obstacles, we propose to leverage the Duchenne muscular dystrophy cardiac care consortium (DMDCCC). Created with grants from the NHLBI and the FDA, this consortium consists of eight high-volume sites with similar DMD/BMD/MDC cardiovascular treatment and diagnostic protocols, including surveillance CMR imaging every 1-2 years. This proposal will create a comprehensive prospective registry of DMD/BMD/MDC patients with meticulously collected clinical data and cardiac magnetic resonance (CMR) images; we anticipate enrollment of 950 patients with over 4000 CMR studies. This cohort will be used to better define the progression of CM and to determine associations with mortality. The central hypothesis of our proposal is that integrated statistical modeling based on advanced imaging can improve prediction of CM progression and mortality. Aim 1 will create a comprehensive cohort of DMD/BMD/MDC patients and model the progression of CM. Aim 2 will determine cardiovascular measures that are associated with CM mortality or rapid progression using novel, data-driven, personalized machine learning models. Aim 3 will create a portal for DMD/BMD/MDC centers to determine patient risk. This multi-PI proposal leverages expertise in clinical care, cardiac imaging, biomedical engineering, complex image analysis, and neural networks. To our knowledge, this study will create the largest cohort of DMD/BMD/MDC patients with CMR images, allowing for a better understanding of CM progression and identifying biomarkers that associate with poor outcomes. The resulting risk portal will provide clinicians all over the world with a method to assess their patient's risk in real time, allowing intensification of therapy for those deemed high risk. By building on prior productive collaborations, particularly that of the DMDCCC, this proposal will expand our understanding of CM, improving clinical care and future cardiac-specific therapeutic trials.

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • California
      • Sacramento, California, United States, 95616
    • District of Columbia
      • Washington D.C., District of Columbia, United States, 20010
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Recruiting
        • Lurie Children's
        • Contact:
          • Study Coordinator
          • Phone Number: 312-227-4100
    • Indiana
      • Indianapolis, Indiana, United States, 46202
    • North Carolina
      • Durham, North Carolina, United States, 27705
    • Ohio
      • Columbus, Ohio, United States, 43205
    • Tennessee
      • Nashville, Tennessee, United States, 37232
        • Recruiting
        • Vanderbilt University Medical Center
        • Contact:
    • Virginia
      • Richmond, Virginia, United States, 23220
        • Recruiting
        • Children's Hospital of Richmond at VCU
        • Contact:
    • Washington
      • Seattle, Washington, United States, 98105

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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

Description

Inclusion Criteria:

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

Exclusion Criteria:

  • 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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Duchenne Muscular Dystrophy, Becker muscular dystrophy, and carriers of muscular dystrophy
Evaluation of surrogate outcome measures of disease in patients with dystrophinopathy

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Mortality
Time Frame: baseline to 10 years
Time from biomarker of interest to mortality
baseline to 10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Vanderbilt University Medical Center

Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 6, 2025

Primary Completion (Estimated)

February 1, 2029

Study Completion (Estimated)

February 1, 2029

Study Registration Dates

First Submitted

June 24, 2026

First Submitted That Met QC Criteria

June 24, 2026

First Posted (Actual)

June 30, 2026

Study Record Updates

Last Update Posted (Actual)

June 30, 2026

Last Update Submitted That Met QC Criteria

June 24, 2026

Last Verified

June 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 240203
  • R01HL167969 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

The data will be shared with C-PATH

IPD Sharing Time Frame

Data will be available at the conclusion of the study

IPD Sharing Access Criteria

Access will be determined by C-PATH

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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