Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

July 3, 2025 updated by: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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.

Study Overview

Status

Active, not recruiting

Conditions

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 Type

Observational

Enrollment (Estimated)

75

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Baltimore, Maryland, United States, 21205
        • Doris Leung

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

12 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Intramuscular fat infiltration on MRI
Time Frame: Baseline, 3 months, 9 months, 15 months, and 21 months
Intramuscular fat infiltration on MRI
Baseline, 3 months, 9 months, 15 months, and 21 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Intramuscular edema on MRI
Time Frame: Baseline, 3 months, 9 months, 15 months, and 21 months
Intramuscular edema on MRI
Baseline, 3 months, 9 months, 15 months, and 21 months
Muscle strength testing
Time Frame: 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
Time Frame: Baseline, 3 months, 9 months, 15 months, and 21 months
Timed function testing
Baseline, 3 months, 9 months, 15 months, and 21 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Investigators

  • Principal Investigator: Doris G Leung, MD, PhD, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 1, 2012

Primary Completion (Estimated)

June 1, 2026

Study Completion (Estimated)

June 1, 2026

Study Registration Dates

First Submitted

August 21, 2012

First Submitted That Met QC Criteria

August 23, 2012

First Posted (Estimated)

August 24, 2012

Study Record Updates

Last Update Posted (Actual)

July 9, 2025

Last Update Submitted That Met QC Criteria

July 3, 2025

Last Verified

July 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NA_00065256

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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