Last updated on January 2019

Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy

Brief description of study

The purpose of this research study is to determine the potential of magnetic resonance imaging to monitor disease progression and to serve as an objective outcome measure for clinical trials in Duchenne Muscular Dystrophy (DMD). The investigators also hope to learn more about the changes that occur in muscles of the lower leg and arm in boys with DMD.

The investigators will compare the muscles of ambulatory or non-ambulatory boys with DMD with muscles of healthy children of the same age and monitor disease progression in boys with DMD over a 5-10 year period. The amount of muscle damage and fat that the investigators measure will also be related to performance in daily activities, such as walking and the loss of muscle strength. In a small group of subjects the investigators will also assess the effect of corticosteroid drugs on the muscle measurements.

Detailed Study Description

The overall objective of this proposal is to validate the potential of noninvasive magnetic resonance imaging (MRI) and spectroscopy (MRS) to monitor disease progression and to serve as an outcome measure for clinical trials in Duchenne muscular dystrophy (DMD). DMD is one of the most devastating genetically linked neuromuscular diseases and is characterized by the absence of dystrophin, resulting in progressive muscle weakness, loss of walking ability and premature death. Despite the poor prognosis for patients with muscular dystrophy, therapeutic interventions have been lacking, and outcome measures for clinical trials have been limited to measures of muscle function, serum biomarkers of muscle breakdown and invasive muscle biopsies. Additional quantitative outcome measures that are noninvasive and sensitive to changes in muscle structure and composition are needed to facilitate the rapid translation of promising new interventions from preclinical studies to clinical trials. As such, this proposal targets the development and validation of magnetic resonance as a noninvasive biomarker of disease progression in muscular dystrophy. Using a multi-site research design this study will examine the intramuscular lipid content, muscle damage/inflammation and contractile area in the lower extremity and/or upper extremity muscles of 200 ambulatory or non-ambulatory boys with DMD and 100 healthy age matched boys using a combination of MRI and MRS technologies. In order to assess the sensitivity of each MR measure to disease progression, all boys with DMD will be reevaluated in yearly or 6 month intervals. In addition, the investigators will correlate changes in MR measures with standard measures of disease progression, such as loss in muscle strength and functional ability. Using MRI/MRS the investigators will also examine the effect of initiating corticosteroid treatment on skeletal muscle characteristics and composition. Finally, the investigators will deposit immortalized fibroblasts from carefully characterized DMD boys participating in this study in established tissue repositories.

The investigators anticipate that the MR techniques developed and validated in this proposal will be suitable for clinical trials in a wide range of muscular dystrophies and other neuromuscular diseases. In addition, MR characterization may serve as a powerful tool to further advance our understanding of the pathogenesis of muscular dystrophy and help guide the design of future trials.

Clinical Study Identifier: NCT01484678

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University of Florida

Gainesville, FL United States
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