Extracellular RNA Biomarkers of Duchenne Muscular Dystrophy
Study Details
Study Description
Brief Summary
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Biofluid collection Eligible volunteers will be asked to provide a single urine sample and undergo a single blood draw. |
Outcome Measures
Primary Outcome Measures
- Extracellular RNA in biofluids [4 years]
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.
Eligibility Criteria
Criteria
Inclusion Criteria:
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Subjects with DMD or BMD based on genetic testing. Control subjects are unknown to have any other muscular dystrophy by history and may have had no genetic testing.
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Able to provide informed consent or assent for participation in the study.
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Demographic characteristics for biofluid collection: Males age 5 years and older with DMD or BMD; males and females ages 18 years and older without muscular dystrophy.
Exclusion Criteria:
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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.
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Use of anti-platelet drugs within 7 days prior to blood draw; use of anticoagulants within 60 days prior to blood draw.
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Inability or unwillingness of the subject to give written informed consent.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Boston Children's Hospital | Boston | Massachusetts | United States | 02115 |
| 2 | Massachusetts General Hospital | Boston | Massachusetts | United States | 02129 |
Sponsors and Collaborators
- Massachusetts General Hospital
- Boston Children's Hospital
Investigators
- Principal Investigator: Thurman M. Wheeler, MD, Massachusetts General Hospital
Study Documents (Full-Text)
None provided.More Information
Publications
- Antoury L, Hu N, Balaj L, Das S, Georghiou S, Darras B, Clark T, Breakefield XO, Wheeler TM. Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. Nat Commun. 2018 Sep 25;9(1):3906. doi: 10.1038/s41467-018-06206-0.
- Antoury L, Hu N, Darras B, Wheeler TM. Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. Ann Clin Transl Neurol. 2019 May 17;6(6):1106-1112. doi: 10.1002/acn3.777. eCollection 2019 Jun.
- 2019P001504