Cardiac Fibrosis, Genetic Diseases, Inborn, Muscular Dystrophies, Musculoskeletal Diseases
Conditions
Keywords
MRI, Muscular Dystrophy, Cardiac, Late gadolinium enhancement
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.
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.
Interventions
None listed
Sponsors
Children's National Research Institute
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Myocardial characterization of fibrosis in patients with muscular dystrophy using contrast based magnetic resonance imaging | At the end of each MRI scan through study completion, up to 5 years. |
Secondary
| Measure | Time frame |
|---|---|
| Measure the amount of intramyocardial fibrosis using extracellular volume measurements | At the end of each MRI scan through study completion, up to 5 years. |
| Identification and validation of serum biomarker ST2 (Interleukin 1 receptor-like 1 protein ) in the presence of myocardial fibrosis. | At the end of the study, up to 10 years |
| Measure regional myocardial strain and correlate with presence of myocardial fibrosis | At the end of each MRI scan through study completion, up to 5 years. |
Countries
United States
Outcome results
None listed