Trial from ClinicalTrials.gov

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Trial ID
NCT02413190
Ethics application status
Date submitted
6/04/2015
Date registered
6/04/2015
Date last updated
18/05/2016

Titles & IDs
Public title
Bone Health in Facioscapulohumeral Muscular Dystrophy
Scientific title
Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-sectional Study
Secondary ID [1] 0 0
IRB00031738
Universal Trial Number (UTN)
Trial acronym
FSHD
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Facioscapulohumeral Muscular Dystrophy 0 0
Condition category
Condition code
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders
Neurological 0 0 0 0
Other neurological disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
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.
Timepoint [1] 0 0
1 year
Secondary outcome [1] 0 0
Fracture frequency - To determine if individuals with FSHD have more fractures compared to normative data of individuals of the same age and gender without FSHD.
Timepoint [1] 0 0
1 year
Secondary outcome [2] 0 0
Correlation with muscle strength and timed function testing - To determine if bone mineral density and lean body mass or fracture history correlate with leg muscle strength or timed function tests in FSHD
Timepoint [2] 0 0
1 year
Secondary outcome [3] 0 0
Correlation with Allele size - To determine if bone mineral density and lean body mass or fracture history correlate with FSHD allele size.
Timepoint [3] 0 0
1 year
Secondary outcome [4] 0 0
Correlation with bone health markers - To determine if serum markers of bone health correlate with bone mineral density in FSHD.
Timepoint [4] 0 0
1 year

Eligibility
Key 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
Minimum age
18 Years
Maximum age
100 Years
Gender
Both males and females
Can healthy volunteers participate?
No
Key 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

Study design
Purpose
Duration
Cross-sectional
Selection
Timing
Statistical methods / analysis

Recruitment
Recruitment status
Active, not recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Current
Final
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
Concord Hospital Neurology Department, Hospital Road, Concord NSW 2139 - Sydney
Recruitment postcode(s) [1] 0 0
- Sydney
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Maryland

Funding & Sponsors
Primary sponsor type
Other
Name
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
Concord Hospital
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
FSHD Global Research Foundation
Address [2] 0 0
Country [2] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
This is a cross-sectional single visit study to determine bone health in individuals with
FSHD.
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries
Contact person responsible for updating information