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.
Subjects with DM1 or DM2 based on genetic testing and/or clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done). Control non-DM subjects are unknown to have DM or any other muscular dystrophy by history and may have had no genetic testing.
Able to provide informed consent or assent for participation in the study.
Demographic characteristics for single biofluid collection: Males and females age 5 years and older.
Demographic characteristics for serial biofluid and muscle function testing: Males and females age 14 years and older with DM1.
Medical history of any of the following. State of immunosuppression; coagulopathy; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and/or C positive.
Medications and other drugs. Use of anti-platelet drugs within 7 days prior to blood draw or biopsy; use of anticoagulants within 60 days prior to blood draw or biopsy; active drug or alcohol use or dependence that, in the opinion of the biopsy surgeon, would interfere with post-procedure wound care.
Other. Inability or unwillingness of the subject to give written informed consent.
Males and females ages 5 years and older with myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and facioscapulohumeral muscular dystrophy (FSHD) confirmed by genetic testing or by clinical history and examination are invited to participate. In addition, male and female healthy volunteers ages 18 and older also are invited to participate.
Cohort
Prospective
Not listed
Extracellular 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.
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Massachusetts General Hospital
Lead sponsor
Boston Children's Hospital
Collaborator
Wake Forest University
Collaborator
University of Pittsburgh
Collaborator
Brigham and Women's Hospital
Collaborator
