Bone Health in Facioscapulohumeral Muscular Dystrophy (FSHD)

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

Status: Completed

Conditions: Facioscapulohumeral Muscular Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT02413190

IRB00031738

Details and patient eligibility

About

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

Full 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.

Enrollment: 94 patients

Sex: All

Ages: 18 to 100 years old

Volunteers: No Healthy Volunteers

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