Amino acids plus diet and exercise for people with FSHD

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Criams Sport Medicine Centre
  Voghera, Pavia, Italy Recruiting

Study contacts

• Study coordinator: giuseppe D'Antona, MD, PhD
• Email: giuseppe.dantona@unipv.it
• Phone: +39 0383 62053

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.