Essential Amino Acids Supplementation interventionExerciseDietPlacebo Control
Essential Amino Acids Supplementation intervention: Use of a balanced essential amino acids mixture to counteract muscle deterioration in FSHD
Exercise: Tailored exercise
Diet: Tailored balanced diet
Placebo Control: Placebo, diet and exercise in FSHD
Study summary
This study evaluates whether amino acid supplementation, combined with a structured diet and exercise program, improves body composition (increased muscle mass and reduced fat mass) and physical performance in individuals with facioscapulohumeral muscular dystrophy (FSHD). The study also compares responses to the intervention between individuals with FSHD and healthy individuals matched for age and sex.
Eligibility
Sex
ALL
Min age
18 Years
Max age
50 Years
Healthy volunteers
Accepted
Inclusion Criteria:
1. Subjects of both sexes with a diagnosis of FSHD, confirmed by genetic testing.
2. Age between 18 and 50 years.
3. Belonging to clinical category A among the four defined in the Comprehensive Clinical Evaluation Form. These patients present the most characteristic signs of the disease: muscle weakness of the facial and scapular girdle.
4. Clinical score ranging from 2 to 5.
5. Preserved ability to walk at the time of enrollment.
6. Absence of central or peripheral nervous system involvement based on neurological history and physical examination.
7. Absence of scoliosis, limb contractures, and tendon retractions.
Exclusion Criteria:
1. Use of beta-blocker medications;
2. Psychological or psychiatric disorders;
3. Musculoskeletal injuries that impair the ability to perform physical exercise;
4. Recent medication adjustment, use of drugs that may affect fatigue, or use of fatigue-stimulating agents (e.g., Modafinil, amantadine);
5. Ongoing participation in another clinical investigation involving a medical device or drug, or participation in such a study completed less than 30 days prior;
6. Pregnant or breastfeeding women;
7. Patients unable to understand the purpose and conditions of the study and unable to provide informed consent;
8. Presence of additional diseases that may interfere with measurements;
9. Patients deprived of liberty or under legal guardianship.
Healthy participants will be age- and sex-matched adults without neuromuscular disease:
1. no chronic disease;
2. no neuromuscular disorders;
3. Same age range.
Primary outcome measure(s)
Change in fat mass in FSHD — From enrollment to the end of treatment at 15 months Change in fat mass (kg) Time Frame: Baseline, after each 6-month intervention phase Fat mass will be assessed to evaluate changes following amino acid supplementation compared to placebo in participants with FSHD undergoing a standardized nutritional and exercise program.
Change in fat-free mass in FSHD — From enrollment to the end of treatment at 15 months Change in fat-free mass (kg) Time Frame: Baseline, after each 6-month intervention phase Fat-free mass will be assessed to evaluate changes following amino acid supplementation compared to placebo.
Change in aerobic capacity in FSHD — From enrollment to the end of treatment at 15 months Change in maximal oxygen consumption (VO₂max) (mL/kg/min) Time Frame: Baseline, after each 6-month intervention phase VO₂max will be measured to assess changes in aerobic capacity following amino acid supplementation compared to placebo.
Change in muscle strength in FSHD — From enrollment to the end of treatment at 15 months Change in handgrip strength (kg) Time Frame: Baseline, after each 6-month intervention phase Handgrip strength will be measured using a dynamometer to evaluate changes in muscle strength following amino acid supplementation compared to placebo.
Change in walking performance in FSHD — From enrollment to the end of treatment at 15 months Change in gait velocity (m/s) Time Frame: Baseline, after each 6-month intervention phase Gait velocity will be assessed to evaluate changes in walking performance following amino acid supplementation compared to placebo.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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