Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.
Study Type
OBSERVATIONAL
Enrollment
465
Boston Children's Hospital
Boston, Massachusetts, United States
ACTIVE_NOT_RECRUITINGBrigham and Women's Hospital
Boston, Massachusetts, United States
RECRUITINGMassachusetts General Hospital
Boston, Massachusetts, United States
RECRUITINGWake Forest University
Winston-Salem, North Carolina, United States
RECRUITINGUniversity of Pittsburgh
Pittsburgh, Pennsylvania, United States
RECRUITINGExtracellular RNA in biofluids
The extracellular RNA biomarkers in the muscular dystrophy groups will be evaluated and compared with the extracellular RNA content in control groups. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity based on clinical measurements of muscle power, electrocardiogram parameters, pulmonary function test parameters, muscle tissue composition using quantitative ultrasound and electrical impedance myography, and muscle tissue specimens.
Time frame: 6 years
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