Amino Acid Supplementation and Physical Exercise in Facioscapulohumeral Muscular Dystrophy: Effects on Body Composition and Physical Efficiency in a Model of Muscular Disease

What this Trial Is About

Researchers are evaluating whether amino acid supplementation combined with a structured diet and exercise program can improve body composition and physical performance in adults with facioscapulohumeral muscular dystrophy (FSHD). This rare muscle disease causes progressive weakness mainly in the face, shoulders, and upper body, leading to reduced strength, aerobic capacity, walking ability, and increased fatigue. The study also compares responses between people with FSHD and healthy individuals matched by age and sex. Participants with FSHD will undergo two 6-month treatment phases with a 3-month break in between, receiving either amino acid supplements or placebo in random order. Healthy volunteers will complete one 6-month phase receiving exercise and diet only. All participants follow a personalized diet and home-based exercise plan including aerobic and resistance training. The amino acid supplement is given twice daily under blinded conditions. Throughout the 15-month study period, researchers will assess body composition, muscle strength, aerobic fitness, walking performance, and daily physical activity using tools like handgrip strength tests, gait analysis, VO2 max measurement, and accelerometers. Safety is monitored mainly for minor injuries related to exercise. The study aims to measure changes in fat mass, lean mass, aerobic capacity, muscle strength, and walking ability from start to end of treatment.

Amino Acids and Exercise in FSHD