Amino acids plus diet and exercise for people with FSHD

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

This trial will test whether taking essential amino acid supplements together with a structured diet and exercise program helps adults with FSHD build muscle, reduce fat, and improve physical performance compared with placebo and matched healthy adults.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 48 (estimated)
• Ages: 18 Years to 50 Years
• Sex: All
• Sponsor: University of Pavia (Academic / other)
• Locations: 1 site (Voghera, Pavia)
• Trial ID: NCT07543016 on ClinicalTrials.gov

What this trial studies

Adults with genetically confirmed FSHD (18–50 years) and age- and sex-matched healthy controls will be enrolled and receive either essential amino acid supplementation or placebo alongside a standardized diet and exercise program. Body composition (lean and fat mass), aerobic fitness, muscle strength, walking performance, and daily physical activity will be measured before and after the intervention. The trial compares responses within the FSHD group and between FSHD participants and healthy matched individuals. The intervention aims to determine whether amino acid supplementation provides added benefit over exercise and diet alone.

Who should consider this trial

Good fit: Adults 18–50 with genetically confirmed FSHD in clinical category A, clinical score 2–5, who can walk and have no major neurologic, psychiatric, or musculoskeletal conditions that would prevent exercise and are not taking beta-blockers or fatigue-altering medications.

Not a fit: People with advanced or non-ambulatory FSHD, scoliosis, limb contractures or tendon retractions, recent medication changes, use of fatigue-modifying drugs, psychiatric disorders, or musculoskeletal injuries that prevent exercise are unlikely to benefit or be eligible.

Why it matters

Potential benefit: If successful, the combination could increase lean mass, reduce fat, and improve strength, aerobic fitness, walking ability, and daily activity in people with FSHD.

How similar studies have performed: Exercise programs have shown benefits in FSHD, but combining structured exercise and diet with essential amino acid supplementation is novel and has not previously been tested in this population.

Eligibility criteria

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.

Where this trial is running

Voghera, Pavia

• Criams Sport Medicine Centre — Voghera, Pavia, Italy (Recruiting)

Study contacts

• Study coordinator: giuseppe D'Antona, MD, PhD

Conditions FSH Muscular Dystrophy; Muscular Dystrophy; amino acids supplementation; muscular dystrophy; amino acids; exercise; facioscapulohumeral muscular dystrophy; exercise training