Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

NCT ID: NCT01671865

Last Updated: 2025-07-09

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

75 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-03-31

Study Completion Date

2026-06-30

Brief Summary

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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

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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.

Conditions

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Facioscapulohumeral Muscular Dystrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

12 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Doris G Leung, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

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

Locations

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Doris Leung

Baltimore, Maryland, United States

Site Status

Countries

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United States

References

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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.

Reference Type BACKGROUND
PMID: 27888415 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 25641525 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 29266323 (View on PubMed)

Related Links

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Other Identifiers

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NA_00065256

Identifier Type: -

Identifier Source: org_study_id

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