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Completed

NCT Number: NCT02413190

Bone Health in Facioscapulohumeral Muscular Dystrophy

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

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Key information

Conditions

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

Age range

18 year–100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Concord Hospital Neurology Department, Hospital Road, Concord NSW 2139, Sydney, Australia

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Bone Mineral Density in FSHD

    Time frame: 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

Sponsors and collaborators

Lead sponsor

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Other

Collaborators

  • Concord Hospital
  • FSHD Global Research Foundation

Registry information

Official study title

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

Acronym: FSHD

Important dates

Study start
2014
Primary completion
2015
Study completion
2016
First posted
Apr 9, 2015
Registry last updated
Nov 5, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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