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| Name | Class |
|---|---|
| Boston Children's Hospital | OTHER |
| Wake Forest University | OTHER |
| University of Pittsburgh | OTHER |
| Brigham and Women's Hospital |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Single biofluid collection | We will ask eligible volunteers to provide a single urine sample and undergo a single blood draw. | ||
| Serial biofluid and muscle function testing | 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 | We will ask eligible volunteers to provide a urine sample and undergo a muscle biopsy once. | ||
| Ultrasound and myography testing | We will ask eligible volunteers to provide a single urine sample, a single blood draw, and undergo ultrasound and electrical impedance myography studies once. |
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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 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 |
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Inclusion Criteria:
Demographic characteristics for single biofluid collection, ultrasound, and myography: Males and females age 14 years and older.
Exclusion Criteria:
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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.
| 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 |
|---|---|
| D009223 | Myotonic Dystrophy |
| D020388 | Muscular Dystrophy, Duchenne |
| D020391 | Muscular Dystrophy, Facioscapulohumeral |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| OTHER |
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biofluid; muscle tissue
| Brigham and Women's Hospital |
| Recruiting |
| Boston |
| Massachusetts |
| 02115 |
| United States |
|
| Massachusetts General Hospital | Recruiting | Boston | Massachusetts | 02129 | United States |
|
| Wake Forest University | Recruiting | Winston-Salem | North Carolina | 27157 | United States |
|
| University of Pittsburgh | Recruiting | Pittsburgh | Pennsylvania | 15213 | United States |
|
| D020967 | Myotonic Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D040181 | Genetic Diseases, X-Linked |