Fascioscapulohumeral Muscular Dystrophy

A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)

This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD). Due to motor unit impairments, NMD patients often cannot tolerate traditional exercise. WB-EMS bypasses voluntary activation limits by directly stimulating muscle contractions. Up to 50 adults with conditions like ALS, SMA, and MG will undergo 20-minute supervised WB-EMS sessions (1-2 times weekly for 4-8 weeks) using the Katalyst system. Outcomes include neural excitability (TMS), motor unit behavior (EMG, NCS), functional tests (walk, balance, strength), and patient-reported fatigue, pain, and quality of life. Strict safety monitoring and exclusion criteria are in place. This study will provide preliminary data on WB-EMS as a potential exercise modality for NMD.

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting about 4 out of 100,000 individuals. The disease is characterized by progressive muscle loss (i.e., muscle atrophy) commonly affecting the face, shoulders, and upper arm muscles. The muscle loss ultimately results in reduced strength and impaired physical performance. At present there is no cure for FSHD, therefore, physicians have focused on therapeutic interventions to help alleviate these symptoms. Daily consumption of adequate amounts of dietary protein is essential to support muscle mass maintenance and overall health and function across the lifespan. However, previous research has reported inadequate protein intake in individuals with FSHD. The characteristic of progressive muscle loss in individuals with FSHD and other muscular dystrophies is ultimately due to an imbalance in the rate of muscle building (i.e., muscle protein synthesis) and muscle breakdown (i.e., muscle protein breakdown), where individuals with FSHD have been shown to have reduced rates of muscle building. As inadequate protein intake is known to result in a loss of muscle mass, strength and function, this loss may be amplified in individuals with FSHD. Dietary recommendations traditionally have been determined through nitrogen balance techniques, where the current recommended dietary allowance (RDA) for daily protein intake for adults is 0.8 g/kg/d. However, recent research indicates how the nitrogen balance technique potentially underestimates protein requirements. Therefore, there is a need to reassess current dietary recommendations in adults with FSHD in order to help support the maintenance of muscle strength and function. Recent efforts to understand protein requirements in various populations have been completed using the indicator amino acid oxidation technique (IAAO). This non-invasive method is reported to provide a robust measure of protein requirements. Due to its non-invasive nature, the IAAO method allows researchers to use this technique in individuals with FSHD, where there is currently limited work in studying this population. The purpose of this study is to measure the protein requirements in individuals with FSHD using the non-invasive IAAO technique.

The goal of this clinical trial is to investigate the effect of a muscle-mimicking, fabric-type shoulder orthosis on functional movements of the upper limb in patients with neuromuscular disorder. The main questions it aims to answer are: * What is the impact of the muscle-mimicking, fabric-type shoulder orthosis on upper limb functional movements in patients with neuromuscular disorder? * Are there observable differences in upper limb function when the shoulder orthosis is worn versus when it is not? Participants will: * Receive education on how to wear and use the shoulder orthosis. * Undergo evaluations, including assessment of upper limb performance, shoulder muscle strength testing, active range of motion measurements, assessment of functional workspace, goal attainment scale evaluation, surface electromyography, physiological measurements such as blood pressure and heart rate, fatigue assessment, and assessment for any musculoskeletal or skin-related issues. Researchers will compare neuromuscular disorder patients before and while wearing and operating the shoulder orthosis to see if there are any significant effects on variables such as upper limb function, range of motion, functional workspace, goal attainment scale, and surface electromyography.

The objective of the ActiLiège Next study is to collect longitudinal data from patients and control subjects using a wearable magneto-inertial device. By collecting natural history data in various neuromuscular disorders (Duchenne Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy 1, Charcot-Marie-Tooth, Centronuclear Myopathy, Congenital Muscular Dystrophy), we aim to validate digital outcome measures to continuously assess motor function in real-life.