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| Name | Class |
|---|---|
| Boston Children's Hospital | OTHER |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Biofluid collection | Eligible volunteers will be asked to provide a single urine sample and undergo a single blood draw. |
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| 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. | 4 years |
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Inclusion Criteria:
Exclusion Criteria:
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Males ages 5 years and older with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). In addition, male and female family members without known muscular dystrophy ages 18 and older also are invited to participate.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Tamkin Shahraki, MD | Contact | 617-726-7506 | tshahraki@mgh.harvard.edu |
| Name | Affiliation | Role |
|---|---|---|
| Thurman M. Wheeler, MD | Massachusetts General Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Boston Children's Hospital | Active, not recruiting | Boston | Massachusetts | 02115 | United States | |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 30254196 | Background | 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. | |
| 31211175 | Background | 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. |
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| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| Massachusetts General Hospital |
| Recruiting |
| Boston |
| Massachusetts |
| 02129 |
| United States |
|
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |