Ultrasound and MRI to Assess Muscle Contractile Performance in Facioscapulohumeral Muscular Dystrophy An Exploratory Study Comparing Imaging Methods for Disease Monitoring

What this Trial Is About

Facioscapulohumeral dystrophy (FSHD) is a hereditary muscle disorder that causes progressive weakness, mainly affecting facial and shoulder muscles and later the trunk and legs. Researchers aim to study how muscle contractile efficiency, affected by disrupted muscle structure, relates to disease progression in FSHD. This study evaluates ultrasound-defined muscle contractile performance compared to current methods like MRI to better monitor FSHD progression and explore potential biomarkers. The study has two stages. Stage I assesses the repeatability and feasibility of measuring muscle contractile performance with ultrasound in healthy volunteers and FSHD patients during a single visit. Stage II compares ultrasound, MRI, and clinical measures between healthy individuals and FSHD patients, and tracks changes in FSHD patients over one year with two visits. Muscle ultrasound is performed alongside surface electromyography and dynamometry, while MRI evaluates muscle fat, volume, inflammation, and edema. Participants undergo muscle ultrasound and MRI scans along with clinical assessments at scheduled visits. Healthy volunteers participate once or twice depending on MRI involvement, while FSHD patients attend two visits one year apart. Researchers measure muscle contractile performance, MRI outcomes, and clinical features to understand disease progression and the potential of ultrasound as a monitoring tool. A total of 100 individuals will take part in the study.

Magnetic Resonance Imaging and Ultrasound Comparison With Load Evaluation