Ultrasound and Magnetic Resonance Imaging for Assessing Muscle Contractile Performance in Facioscapulohumeral Dystrophy - An Exploratory Study

What this Trial Is About

Facioscapulohumeral dystrophy (FSHD) is a common hereditary neuromuscular disorder characterized by progressive muscle weakness mainly affecting the face and shoulder area, spreading to the trunk and legs. Researchers are studying how disrupted muscle structure in FSHD affects muscle contractile efficiency, which may explain weakness beyond muscle fiber loss. This study explores whether ultrasound-defined muscle contractile performance can serve as a useful biomarker to monitor disease progression and treatment effects in FSHD. The study has two stages. Stage I assesses the feasibility and repeatability of measuring muscle contractile performance with ultrasound in healthy volunteers and FSHD patients. Stage II compares contractile performance, MRI, and clinical measures between healthy individuals and FSHD patients and evaluates changes over one year in patients. Procedures include muscle ultrasound combined with electromyography and dynamometry for upper and lower limbs, and MRI scans to assess muscle fat, volume, inflammation, and edema in selected participants. Participants will undergo ultrasound assessments at baseline; FSHD patients will have follow-up visits after one year. Some healthy volunteers will also have MRI scans. Researchers will collect ultrasound videos of muscle contractions, clinical data, and MRI images to measure contractile performance and disease progression. Safety and feasibility will be monitored, and the total study duration for patients includes baseline plus a one-year follow-up, while healthy volunteers have up to two visits within baseline.

Magnetic Resonance Imaging and Ultrasound Comparison With Load Evaluation