Bone Health in Facioscapulohumeral Muscular Dystrophy

NCT02413190 | Completed Results

• 1 other identifier: IRB00031738
• Study Type: observational
• Target: 94
• Locations: 2 countries
• Sites: 2

Brief Summary

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

Conditions

Facioscapulohumeral Muscular Dystrophy

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The population consists of individuals with Facioscapulohumeral Muscular Dystrophy.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Hugo W. Moser Research Institute at Kennedy Krieger, Inc.: lead
• Concord Hospital: collaborator
• FSHD Global Research Foundation: collaborator

Study Sites (2)

Kennedy Krieger Institute, Johns Hopkins School of Medicine

Baltimore, Maryland, 21205, United States

Location

Concord Hospital Neurology Department, Hospital Road, Concord NSW 2139

Sydney, Australia

Location

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Results Point of Contact

• Title: Dr. Kathryn Wagner
• Organization: Kennedy Krieger Institute

wagnerk@kennedykrieger.org

443-923-9525

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 6, 2015
• First Posted: April 9, 2015
• Study Start: July 1, 2014
• Primary Completion: July 1, 2015
• Study Completion: August 1, 2016
• Last Updated: November 5, 2019
• Results First Posted: November 5, 2019

Record last verified: 2019-02

Data Sharing

• IPD Sharing: Will not share

Locations

AU (1); US (1)