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NCT Number: NCT02834650

Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

This study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in heart health over time in boys with DMD.

Currently, there is a lack of sufficiently well characterized cardiac MRI biomarkers that can serve as endpoints for detecting on-target and/or off-target cardiac effects during clinical drug trials for boys with DMD.

Consequently, the first objective is to identify and characterize several cardiac MRI biomarkers for boys with DMD.

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Key information

Conditions

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

Age range

7 year–21 year

Sex eligibility

Male

Study type

Interventional

Phase

Not applicable

Primary location

University of California, Los Angeles, Los Angeles, California, United States

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About this study

The second objective is to use their well-characterized cardiac MRI biomarkers and define their sensitivity for detecting early cardiac involvement. The final objective is to use these validated cardiac MRI biomarkers to better understand the genotype-phenotype correlation in boys with DMD, which to date remain tenuous. The investigators propose a pilot study to explore cardiac genotype-phenotype correlations in boys with DMD and outlier phenotypes using approaches they have pioneered for skeletal muscle.

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

  • Healthy boys or pediatric patients with DMD age 7 to 21
  • Able & willing to complete an approximately 75-minute (or less) MRI exam without sedation or mechanical ventilation
  • Drug regimen (if applicable) stable for at least 3 months prior to participation

Exclusion criteria

  • Renal insufficiency (GFR<40 mL/min/m2)
  • Non-MRI compatible implants (e.g. neurostimulator, pacemaker, implanted cardioverter defibrillator)
  • Claustrophobia that prevents an MRI exam
  • Known allergy to MRI contrast agents
  • Serum potassium level of >5.0 mmol/L
  • Signs and symptoms of heart failure

Treatment and study plan

Cardiac MRI with contrast

Other

Cardiac MRI

Cardiac MRI without contrast

Other

Cardiac MRI

Blood Test

Other

Hematocrit, Creatinine, Troponin, BNP

Heart Rate

Other

Holter Monitor

pulmonary function test

Other

Pulmonary Function Test

Genetic Testing

Other

Genetic Testing

Repeat MRI scan

Other

Repeat MRI scan

Primary outcomes

  1. Myocardial Tissue Characterization

    Time frame: 6 months

    Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility

  2. Myocardial Functional Characterization

    Time frame: 6 months

    Strain imaging and rotational mechanics

  3. Genomic Analysis

    Time frame: 4 years

    Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis

Sponsors and collaborators

Lead sponsor

Stanford University

Other

Collaborators

  • Children's Hospital of Orange County
  • National Heart, Lung, and Blood Institute (NHLBI)
  • National Institutes of Health (NIH)
  • University of California, Los Angeles

Registry information

Official study title

Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for Duchenne Muscular Dystrophy (DMD)

Important dates

Study start
2017
Primary completion
2022
Study completion
2022
First posted
Jul 15, 2016
Registry last updated
May 10, 2022

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.

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