Bone Health in Facioscapulohumeral Muscular Dystrophy (FSHD)

Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-sectional Study

This is a cross-sectional single visit study to determine bone health in individuals with FSHD.

Study Overview

• Status: Completed
• Conditions: Facioscapulohumeral Muscular Dystrophy

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 Type: Observational
• Enrollment (Actual): 94

Contacts and Locations

Study Locations

• Australia
  • Sydney, Australia
    • Concord Hospital Neurology Department, Hospital Road, Concord NSW 2139
• United States
  • Maryland
    • Baltimore, Maryland, United States, 21205
      • Kennedy Krieger Institute, Johns Hopkins School of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 100 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

The population consists of individuals with Facioscapulohumeral Muscular Dystrophy.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
• Collaborators: Concord Hospital; FSHD Global Research Foundation

Study record dates

Study Major Dates

• Study Start: July 1, 2014
• Primary Completion (Actual): July 1, 2015
• Study Completion (Actual): August 1, 2016

Study Registration Dates

• First Submitted: April 6, 2015
• First Submitted That Met QC Criteria: April 6, 2015
• First Posted (Estimate): April 9, 2015

Study Record Updates

• Last Update Posted (Actual): November 5, 2019
• Last Update Submitted That Met QC Criteria: November 3, 2019
• Last Verified: February 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Facioscapulohumeral
• Other Study ID Numbers: IRB00031738

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO