Clinical trial NCT01671865: Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
Official title: Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Facioscapulohumeral Muscular Dystrophy
Keywords: FSHD
magnetic resonance imaging
magnetic resonance spectroscopy
Lead sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Sponsor class: OTHER
First posted: 2012-08-24
Enrollment: 75
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: This study will include people with facioscapulohumeral muscular dystrophy confirmed through genetic testing.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Intramuscular fat infiltration on MRI
timeFrame: Baseline, 3 months, 9 months, 15 months, and 21 months
Secondary outcomes:
measure: Intramuscular edema on MRI
timeFrame: Baseline, 3 months, 9 months, 15 months, and 21 months
measure: Muscle strength testing
timeFrame: Baseline, 3 months, 9 months, 15 months, and 21 months
measure: Timed function testing
timeFrame: Baseline, 3 months, 9 months, 15 months, and 21 months
Other outcomes:
Locations:
city: Baltimore
country: United States
facility: Doris Leung
state: Maryland
Study officials:
affiliation: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
name: Doris G Leung, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.