Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

Active, not recruiting

• Conditions: Facioscapulohumeral Muscular Dystrophy

• Registration Number: NCT01671865
• Lead Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

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.

Detailed Description

This research study is being done to study changes in muscle imaging over time in people with facioscapulohumeral muscular dystrophy (FSHD). Whole-body magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) will be used to evaluate skeletal muscle in study participants. This research is being done to assess how changes in muscle imaging correspond to muscle strength and function. Qualified participants will be asked to complete 5 study visits over 21 months. Each visit will include muscle strength and function testing in addition to the MRI/MRS scan. The investigators plan to use MRI and MRS in developing outcome measures that can be used in future clinical trials for FSHD.

Study Timeline

• Study Start: 2012-03
• Study First Submitted: 2012-08-21
• Study First Submitted QC: 2012-08-23
• Study First Posted: 2012-08-24
• Status Verified: 2024-07
• Last Update Submitted: 2024-07-01
• Last Update Posted: 2024-07-03
• Primary Completion: 2025-06
• Study Completion: 2025-06

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 75

Inclusion Criteria

• 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)

Exclusion Criteria

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Intramuscular fat infiltration on MRI	Baseline, 3 months, 9 months, 15 months, and 21 months	Intramuscular fat infiltration on MRI

Secondary Outcome Measures

Name	Time	Method
Intramuscular edema on MRI	Baseline, 3 months, 9 months, 15 months, and 21 months	Intramuscular edema on MRI
Timed function testing	Baseline, 3 months, 9 months, 15 months, and 21 months	Timed function testing
Muscle strength testing	Baseline, 3 months, 9 months, 15 months, and 21 months	Muscle strength testing

Trial Locations

Locations (1)

Doris Leung; 🇺🇸 Baltimore, Maryland, United States