Bone Health in Facioscapulohumeral Muscular Dystrophy

Completed

• Conditions: Facioscapulohumeral Muscular Dystrophy

• Registration Number: NCT02413190
• Lead Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

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.

Study Timeline

• Study Start: 2014-07
• Study First Submitted: 2015-04-06
• Study First Submitted QC: 2015-04-06
• Study First Posted: 2015-04-09
• Primary Completion: 2015-07
• Study Completion: 2016-08
• Results First Submitted: 2017-08-23
• Status Verified: 2019-02
• Results First Submitted QC: 2019-11-03
• Last Update Submitted: 2019-11-03
• Results First Posted: 2019-11-05
• Last Update Posted: 2019-11-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 94

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (2)

Kennedy Krieger Institute, Johns Hopkins School of Medicine; 🇺🇸 Baltimore, Maryland, United States

Concord Hospital Neurology Department, Hospital Road, Concord NSW 2139; 🇦🇺 Sydney, Australia