Facioscapulohumeral Muscular Dystrophy
Conditions
Brief summary
This is a cross-sectional single visit study to determine bone health in individuals with FSHD.
Detailed description
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.
Interventions
None listed
Sponsors
Concord Hospital
FSHD Global Research Foundation
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 100 Years
Healthy volunteers
No
Inclusion criteria
* Genetic diagnosis of FSHD including chromosome 4 deletion and haplotype * Age \> 18 years * Ability to provide written informed consent for participation in the study * Ability to participate in the DEXA scan
Exclusion criteria
* Unwillingness or inability to comply with the requirements of this protocol (in the opinion of the PI) including, but not limited to, the presence of any condition (physical, mental or social) that precludes the participant from comfortably and safely obtaining a DEXA scan, phlebotomy, or neurological examination
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Bone Mineral Density in FSHD | Single visit | 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 |
Countries
Australia, United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| FSHD 94 subjects with genetically confirmed FSHD1 | 94 |
| Total | 94 |
Baseline characteristics
| Characteristic | FSHD |
|---|---|
| Age, Continuous | 48.9 years STANDARD_DEVIATION 51.2 |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants |
| Race (NIH/OMB) Asian | 4 Participants |
| Race (NIH/OMB) Black or African American | 1 Participants |
| Race (NIH/OMB) More than one race | 0 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 1 Participants |
| Race (NIH/OMB) White | 88 Participants |
| Region of Enrollment Australia | 46 Participants |
| Region of Enrollment United States | 48 Participants |
| Sex: Female, Male Female | 46 Participants |
| Sex: Female, Male Male | 48 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 94 |
| other Total, other adverse events | 0 / 94 |
| serious Total, serious adverse events | 0 / 94 |
Outcome results
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
Time frame: Single visit
Population: Z score: Higher numbers represent higher bone mineral density.
| Arm | Measure | Value (MEAN) |
|---|---|---|
| FSHD | Bone Mineral Density in FSHD | -0.4 z-score |