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Assessment of Cardiopulmonary Function in Duchenne Muscular Dystrophy

Completed
Conditions
Muscular Dystrophy, Duchenne
Interventions
Other: Magnetic Resonance Imaging (MRI)
Other: Pulmonary Function Testing (PFT)
Other: Metabolic Exercise Testing using stationary bicycle
Other: Echocardiogram
Registration Number
NCT02195999
Lead Sponsor
University of Florida
Brief Summary

This study seeks to develop and validate non-invasive assessments of cardiac and respiratory muscles with magnetic resonance imaging (MRI) to better predict the natural disease progression of Duchenne muscular dystrophy (DMD) in affected individuals over time, as well as determine whether peripheral skeletal muscle dysfunction can predict cardiopulmonary dysfunction. The central hypothesis is that non-invasive MRI measures of the heart, muscle, and peripheral skeletal muscles can sensitively predict future cardiopulmonary decline.

Detailed Description

Magnetic Resonance Imaging (MRI) of the heart and breathing muscles, special breathing tests (called pulmonary function testing), special exercise tests (using a stationary bike), and possibly an echocardiogram (ultrasound of the heart, commonly known as an "echo") will be completed up to 4 times per year for up to 4 years. Most participants will complete testing once or twice each year; however, some participants will be asked to repeat some of the tests twice during each visit.

Recruitment & Eligibility

Status
COMPLETED
Sex
Male
Target Recruitment
9
Inclusion Criteria
  • Male
  • 5-15 years old at the time of enrollment
  • Diagnosed with DMD (as defined by parent project)
  • Written parental informed consent (and assent where appropriate) before any study procedures take place
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Exclusion Criteria
  • Contraindication to an MRI examination
  • Presence of a secondary condition that impacts muscle function or metabolism, that leads to developmental delay or impaired motor control, or that is not stable
  • Participant is unable to comply with study requirements
  • Congenital structural abnormality of the heart, repaired or unrepaired
  • Clinically contraindicated participation
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Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
Individuals with DMDMagnetic Resonance Imaging (MRI)Magnetic Resonance Imaging is a non-invasive method to determine ventricular size, volumes, mass, and ejection fraction. Pulmonary Function testing (PFT) are a series of non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology. Metabolic exercise testing using stationary bicycle (exercise capacity and MVO2) evaluates global cardiopulmonary functional status. Echocardiogram with multiple-echo Dixon method helps to assess cross-sectional and longitudinal variations in myocardial structure.
Individuals with DMDPulmonary Function Testing (PFT)Magnetic Resonance Imaging is a non-invasive method to determine ventricular size, volumes, mass, and ejection fraction. Pulmonary Function testing (PFT) are a series of non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology. Metabolic exercise testing using stationary bicycle (exercise capacity and MVO2) evaluates global cardiopulmonary functional status. Echocardiogram with multiple-echo Dixon method helps to assess cross-sectional and longitudinal variations in myocardial structure.
Individuals with DMDMetabolic Exercise Testing using stationary bicycleMagnetic Resonance Imaging is a non-invasive method to determine ventricular size, volumes, mass, and ejection fraction. Pulmonary Function testing (PFT) are a series of non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology. Metabolic exercise testing using stationary bicycle (exercise capacity and MVO2) evaluates global cardiopulmonary functional status. Echocardiogram with multiple-echo Dixon method helps to assess cross-sectional and longitudinal variations in myocardial structure.
Individuals with DMDEchocardiogramMagnetic Resonance Imaging is a non-invasive method to determine ventricular size, volumes, mass, and ejection fraction. Pulmonary Function testing (PFT) are a series of non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology. Metabolic exercise testing using stationary bicycle (exercise capacity and MVO2) evaluates global cardiopulmonary functional status. Echocardiogram with multiple-echo Dixon method helps to assess cross-sectional and longitudinal variations in myocardial structure.
Primary Outcome Measures
NameTimeMethod
Magnetic Resonance (MRI) T2 and Magnetic Resonance Spectroscopy (MRS)up to 4 years

The MRI T2 and MRS will be used as a noninvasive marker of myocardial damage/inflammation of participants of this study as an early detection for DMD.

Secondary Outcome Measures
NameTimeMethod
Pulmonary Function Testing (PFT)up to 4 years

Non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology.

Metabolic Exercise Testing (exercise capacity and MVO2)up to 4 years

With the use of metabolic exercise testing, the aim is to correlate changes in cardiopulmonary function with decline in peripheral skeletal muscle function in individuals with DMD. Metabolic exercise testing includes measuring exercise capacity and maximum oxygen consumption (MVO2).

Multiple-echo Dixonup to 4 years

The echocardiogram performed with the multiple-echo Dixon method helps to assess participants cross-sectionally and longitudinally for variations and changes in myocardial structure. This method and MRS will also be used for fat fraction determination.

Trial Locations

Locations (1)

Clinical and Translational Research Building

🇺🇸

Gainesville, Florida, United States

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