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Pilot Study of Cardiac MR in Patients With Muscular Dystrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02921321
Recruitment Status : Recruiting
First Posted : October 3, 2016
Last Update Posted : February 24, 2021
Information provided by (Responsible Party):
Christopher Spurney, Children's National Research Institute

Brief Summary:
Muscular Dystrophy can affect the skeletal muscles and also the heart and breathing muscles, causing significant morbidity and mortality. As patients are now living longer, treatment of muscular dystrophies involves drugs that help improve heart function. However, better types of heart imaging studies are needed to understand how these treatments work. Researchers want to improve heart imaging to identify earlier indicators of heart dysfunction in muscular dystrophy patients and how these are changed by medical treatment. The new imaging indicators will also help identify candidates for entry into future clinical trials.

Condition or disease
Muscular Dystrophies Cardiac Fibrosis Genetic Diseases, Inborn Musculoskeletal Diseases

Detailed Description:
Cardiomyopathy causes significant morbidity and mortality in multiple forms of muscular dystrophy affecting children, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Pharmaceutical treatments for the cardiomyopathy of muscular dystrophy, including angiotensin-converting enzyme (ACE) inhibition and beta-adrenergic receptor blockade, afford significant benefit and demonstrate cardiac remodeling in clinical studies. Further studies are needed to identify and characterize more sensitive indicators of cardiac dysfunction in muscular dystrophy subjects to better stratify subjects for entry into clinical protocols.

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Pilot Study of Cardiac Magnetic Resonance in Patients With Muscular Dystrophy
Study Start Date : January 2014
Estimated Primary Completion Date : December 2024
Estimated Study Completion Date : December 2024

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Myocardial characterization of fibrosis in patients with muscular dystrophy using contrast based magnetic resonance imaging [ Time Frame: At the end of each MRI scan through study completion, up to 5 years. ]

Secondary Outcome Measures :
  1. Measure the amount of intramyocardial fibrosis using extracellular volume measurements [ Time Frame: At the end of each MRI scan through study completion, up to 5 years. ]
  2. Identification and validation of serum biomarker ST2 (Interleukin 1 receptor-like 1 protein ) in the presence of myocardial fibrosis. [ Time Frame: At the end of the study, up to 10 years ]
  3. Measure regional myocardial strain and correlate with presence of myocardial fibrosis [ Time Frame: At the end of each MRI scan through study completion, up to 5 years. ]

Biospecimen Retention:   Samples Without DNA
An additional 5cc of blood work will be drawn at the time that the intravascular catheter is inserted for contrast agent administration for the cardiac MRI scans. This blood will be used to identify serum biomarkers in myocardial fibrosis, and to validate the potential use for diagnostic purposes. No genetic testing will be done on these samples. The blood samples will be identified with the study ID number only, and will be stored in a secure freezer.

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Male or females at least 6 years of age with a diagnosis of Duchenne, Becker, or Limb Girdle Muscular Dystrophy.

Inclusion Criteria:

  • Diagnosis of Duchenne, Becker, or Limb Girdle Muscular Dystrophy

Exclusion Criteria:

  • Day-time users of continuous positive airway pressure (CPAP)
  • Sip ventilator users
  • Invasive ventilator dependent
  • Pregnant minors or adults (when uncertain, participants will undergo urine testing) or lactating minors and adults
  • Females who are nursing and who do not plan to discard breast milk for 24 hours
  • Decompensated congestive heart failure (unable to lie flat during CMR)
  • Impaired renal excretory function (calculated Glomerular Filtration Rate less than 30 milliliters/min)
  • Contra-indications to Magnetic Resonance Imaging:
  • Cardiac pacemaker or implantable defibrillator
  • Cerebral aneurysm clip
  • Neural stimulator
  • Metallic ocular foreign body
  • Any implanted device (i.e. insulin pump, drug infusion device)
  • Claustrophobia
  • Metal shrapnel or bullet
  • Investigator assessment of inability to comply with protocol
  • Unable/unwilling to lie still throughout the research procedure or who require sedation
  • Persons with cognitive impairment

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02921321

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Contact: Christopher Spurney, MD 202-476-2020
Contact: Karin Hamann, RN 202-476-2317

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United States, District of Columbia
Children's National Health System Recruiting
Washington, District of Columbia, United States, 20010
Sponsors and Collaborators
Children's National Research Institute
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Principal Investigator: Christopher Spurney, MD Children's National Research Institute

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Responsible Party: Christopher Spurney, MD, Children's National Research Institute Identifier: NCT02921321    
Other Study ID Numbers: 4193
Internal Bridge Funding ( Other Identifier: Children's Research Institute,Children's National )
First Posted: October 3, 2016    Key Record Dates
Last Update Posted: February 24, 2021
Last Verified: January 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Christopher Spurney, Children's National Research Institute:
Muscular Dystrophy
Late gadolinium enhancement
Additional relevant MeSH terms:
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Muscular Dystrophies
Musculoskeletal Diseases
Genetic Diseases, Inborn
Muscular Disorders, Atrophic
Muscular Diseases
Neuromuscular Diseases
Nervous System Diseases