Biomarker Development for Muscular Dystrophies

Study Overview
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Brief Summary
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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.

Official Title
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Biomarker Development for Muscular Dystrophies

Conditions
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Myotonic Dystrophy, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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. Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years. Demographic characteristics for single biofluid collection, ultrasound, and myography: Males and females age 14 years and older. Exclusion Criteria: 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.

Ages Eligible for Study
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Minimum Age: 5 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Single biofluid collection<br>We will ask eligible volunteers to provide a single urine sample and undergo a single blood draw. | |
| Serial biofluid and muscle function testing<br>We will ask eligible volunteers to provide a urine sample, a blood sample, and undergo standard muscle function tests once every six months over a two-year period, and undergo pulmonary function tests and electrocardiogram once per year for two years. | |
| Biofluid and muscle tissue biopsy<br>We will ask eligible volunteers to provide a urine sample and undergo a muscle biopsy once. | |
| Ultrasound and myography testing<br>We will ask eligible volunteers to provide a single urine sample, a single blood draw, and undergo ultrasound and electrical impedance myography studies once. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 6 years |