Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

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

Status: Active, not recruiting

Conditions: Facioscapulohumeral Muscular Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT01671865

NA_00065256

Details and patient eligibility

About

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.

Full 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.

Enrollment: 75 estimated patients

Sex: All

Ages: 12+ years old

Volunteers: No 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