Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

NCT01671865 | Active Not Recruiting

• 1 other identifier: NA_00065256
• Study Type: observational
• Target: 75
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this research study is to identify and study changes in muscle in people with facioscapulohumeral muscular dystrophy using magnetic resonance imaging and spectroscopy.

Conditions

Facioscapulohumeral Muscular Dystrophy

Keywords

FSHD; magnetic resonance imaging; magnetic resonance spectroscopy

Outcome Measures

Primary Outcomes (1)

• Intramuscular fat infiltration on MRI

  Intramuscular fat infiltration on MRI

  Baseline, 3 months, 9 months, 15 months, and 21 months

Secondary Outcomes (3)

• Intramuscular edema on MRI

  Baseline, 3 months, 9 months, 15 months, and 21 months

• Muscle strength testing

  Baseline, 3 months, 9 months, 15 months, and 21 months

• Timed function testing

  Baseline, 3 months, 9 months, 15 months, and 21 months

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study will include people with facioscapulohumeral muscular dystrophy confirmed through genetic testing.

You may qualify if:

• Ability to give written informed consent for study participation (a parent or guardian will be asked to provide informed consent for participants younger than 18 years old)
• Confirmed diagnosis of FSHD through genetic testing (participants will be asked to provide copies of genetic testing results)

You may not qualify if:

• Any contraindication to MRI scanning
• Inability to complete a physical examination, including strength measurements

Sponsors & Collaborators

• Hugo W. Moser Research Institute at Kennedy Krieger, Inc.: lead

Study Sites (1)

Doris Leung

Baltimore, Maryland, 21205, United States

Location

Related Publications (3)

• Leung DG. Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review. J Neurol. 2017 Jul;264(7):1320-1333. doi: 10.1007/s00415-016-8350-6. Epub 2016 Nov 25.

  PMID: 27888415 BACKGROUND

• Leung DG, Carrino JA, Wagner KR, Jacobs MA. Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2015 Oct;52(4):512-20. doi: 10.1002/mus.24569. Epub 2015 Mar 31.

  PMID: 25641525 BACKGROUND

• Leung DG, Wang X, Barker PB, Carrino JA, Wagner KR. Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018 Jun;57(6):958-963. doi: 10.1002/mus.26048. Epub 2018 Feb 14.

  PMID: 29266323 BACKGROUND

Related Links

• Kennedy Krieger Institute Center for Genetic Muscle Disorders

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

Study Officials

• Doris G Leung, MD, PhD

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 21, 2012
• First Posted: August 24, 2012
• Study Start: March 1, 2012
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026
• Last Updated: July 9, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)