Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

Principal Investigator: Kathryn Wagner

This study, supported by the FSH Society, will utilize magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) to develop non-invasive, quantitative imaging biomarkers for facioscapulohumeral muscular dystrophy (FSHD), a genetic disorder that causes progressive skeletal muscle atrophy. The primary objective of this protocol will be to perform muscle MRI and MRS on groups of subjects with FSHD and control subjects. The imaging protocols employed in this study will be developed in a collaborative effort between resarchers at the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute and Department of Radiology and Radiological Sciences at Johns Hopkins Hospital. Imaging and spectroscopic measurements will be correlated with muscle strength testing measurements to identify biomarkers that accurately reflect disease severity. In order to confirm that these biomarkers are specific for FSHD, both healthy and diseased controls will be enrolled. The successful characterization of imaging and spectroscopy biomarkers in FSHD will provide a powerful, non-invasive tool for future therapeutic trials in FSHD. Travel funds are available.