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| Name | Class |
|---|---|
| Concord Hospital | OTHER |
| FSHD Global Research Foundation | OTHER |
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This is a cross-sectional single visit study to determine bone health in individuals with FSHD.
Bone health will be assessed using 1) a DEXA scan to measure bone mineral density and lean body mass, and 2) blood tests of biomarkers of bone resorption and formation. These procedures will be correlated to measures of muscle strength testing and timed function tests to determine fracture risk in FSHD individuals considering age, gender, muscle strength and FSHD allele size.
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| Measure | Description | Time Frame |
|---|---|---|
| Bone Mineral Density in FSHD | To determine if bone mineral density is reduced in individuals with FSHD compared to normative data of individuals of the same age and gender without FSHD.The Bone Mineral Density Z-score indicates the number of standard deviations away from the mean. A Z-score of 0 is equal to the mean of a reference population (i.e., healthy, age and sex-matched individuals). Negative numbers indicate values lower than the reference population and positive numbers indicate values higher than the reference population | Single visit |
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Inclusion Criteria:
Exclusion Criteria:
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The population consists of individuals with Facioscapulohumeral Muscular Dystrophy.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Kennedy Krieger Institute, Johns Hopkins School of Medicine | Baltimore | Maryland | 21205 | United States | ||
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| ID | Title | Description |
|---|---|---|
| FG000 | FSHD | 94 subjects |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
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| ID | Title | Description |
|---|---|---|
| BG000 | FSHD | 94 subjects with genetically confirmed FSHD1 |
| Units | Counts |
|---|---|
| Participants |
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| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Bone Mineral Density in FSHD | To determine if bone mineral density is reduced in individuals with FSHD compared to normative data of individuals of the same age and gender without FSHD.The Bone Mineral Density Z-score indicates the number of standard deviations away from the mean. A Z-score of 0 is equal to the mean of a reference population (i.e., healthy, age and sex-matched individuals). Negative numbers indicate values lower than the reference population and positive numbers indicate values higher than the reference population | Z score: Higher numbers represent higher bone mineral density. | Posted | Mean | Full Range | z-score | Single visit |
|
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | FSHD | All subjects with a confirmed FSHD allele | 0 |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. Kathryn Wagner | Kennedy Krieger Institute | 443-923-9525 | wagnerk@kennedykrieger.org |
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| ID | Term |
|---|---|
| D020391 | Muscular Dystrophy, Facioscapulohumeral |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| Concord Hospital Neurology Department, Hospital Road, Concord NSW 2139 |
| Sydney |
| Australia |
| years |
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| Sex: Female, Male | Count of Participants | Participants |
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| Race (NIH/OMB) | Count of Participants | Participants |
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| Region of Enrollment | Count of Participants | Participants |
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| Units | Counts |
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| Participants |
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| 94 |
| 0 |
| 94 |
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| 94 |
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| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |