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| ID | Type | Description | Link |
|---|---|---|---|
| UL1TR000001 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
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The purpose of this study is to make a standardized and scalable Rasch-built clinical severity scale to help in finding genetic and environmental modifiers of disease in Facioscapulohumeral muscular dystrophy (FSHD).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| FSHD | Participants with FSHD-1 or FSHD-2. No intervention is given to participants. Participants will undergo series of tests and procedures in order to make a standardized and scalable Rasch-built clinical severity scale. |
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| Measure | Description | Time Frame |
|---|---|---|
| FSHD Clinical Severity Scale | Measure severity of FSHD. | 1 day |
| Measure | Description | Time Frame |
|---|---|---|
| Brooks scale | Measures upper extremity function.Scores on the scale range from 1-6. A score of 1 means the person can elevate their arms above their head while arms remain straight. 6 means the person cannot elevate their arms to their mouth and do not have useful function of their hands. | 1 day |
| Vignos scale |
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Inclusion Criteria:
Exclusion Criteria:
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Particpants with genetically verified FSHD types 1 and 2.
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| Name | Affiliation | Role |
|---|---|---|
| Jeffrey Statland, MD | University of Kansas Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Kansas Medical Center | Kansas City | Kansas | 66160 | United States | ||
| University of Utah |
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| ID | Term |
|---|---|
| D020391 | Muscular Dystrophy, Facioscapulohumeral |
| D009136 | Muscular Dystrophies |
| ID | Term |
|---|---|
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
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Whole blood samples will be collected and stored for genetic testing. Muscle biopsies are also being collected for future functional assays to verify identified genetic modifiers.
Measures lower extremity function. Scores on the scale range from 1-10. A score of 1 means the person can walk and climb stairs without assistance. A score of 10 means the person is bedridden. |
| 1 day |
| Iowa Oral Performance Instrument (IOPI) | IOPI measures lip and tongue strength by measuring the amount of pressure a person can exert on the tool. | 1 day |
| Manual muscle testing | Measure person's range of motion. Scored on a scale with range of 0-5. Score of 0 means no movement. Score of 5 means the person has a full range of movement. | 1 day |
| Quantitative strength testing | 1 day |
| Functional testing | 1 day |
| Reparatory function testing | 1 day |
| Patient-reported outcome | 1 day |
| Salt Lake City |
| Utah |
| 84112 |
| United States |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |