Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01671865

Enrollment

Registered

2012-08-24

Start date

2012-03-01

Completion date

2028-06-01

Last updated

2026-08-05

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Facioscapulohumeral Muscular Dystrophy

Keywords

FSHD, magnetic resonance imaging, magnetic resonance spectroscopy

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

12 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

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

Secondary

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

Countries

United States

Contacts

PRINCIPAL_INVESTIGATORDoris G Leung, MD, PhD

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

Outcome results