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NCT Number: NCT01671865

Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

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.

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This study is active but is not currently recruiting participants.

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Key information

Conditions

Facioscapulohumeral Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Facioscapulohumeral Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

12 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Doris Leung

Baltimore, Maryland, 21205, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Intramuscular fat infiltration on MRI

    Time frame: Baseline, 3 months, 9 months, 15 months, and 21 months

    Intramuscular fat infiltration on MRI

Secondary outcomes

  1. Intramuscular edema on MRI

    Time frame: Baseline, 3 months, 9 months, 15 months, and 21 months

    Intramuscular edema on MRI

  2. Muscle strength testing

    Time frame: Baseline, 3 months, 9 months, 15 months, and 21 months

    Muscle strength testing

  3. Timed function testing

    Time frame: Baseline, 3 months, 9 months, 15 months, and 21 months

    Timed function testing

Sponsors and collaborators

Lead sponsor

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

Other

Registry information

Important dates

Study start
2012
Primary completion
2026
Study completion
2026
First posted
Aug 24, 2012
Registry last updated
Jul 9, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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