Amino Acids and Exercise in FSHD

April 17, 2026 updated by: University of Pavia

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Background and Rationale: Facioscapulohumeral muscular dystrophy (FSHD) is a rare disease (≈1:15,000-1:20,000) characterized by progressive muscle weakness, primarily affecting the face, shoulders, and upper body. The condition is associated with reduced strength, aerobic capacity, walking ability, and increased fatigue, leading to impaired quality of life. In the absence of a curative treatment, conservative strategies are essential. Exercise has demonstrated beneficial effects; however, the combined impact of exercise and amino acid supplementation-known to stimulate protein synthesis-has not been investigated in individuals with FSHD and may help counteract muscle loss. Objectives: The primary objective is to evaluate the effects of amino acid supplementation on body composition and physical performance in individuals with FSHD undergoing a standardized nutritional and exercise program.

The secondary objective is to compare these effects with those observed in healthy individuals matched for age and sex. Expected Outcomes: Amino acid supplementation is expected to result in greater improvements in lean mass, fat mass, aerobic fitness, muscle strength, walking performance, and daily physical activity compared to placebo. Improvements are expected in both groups; however, individuals with FSHD may exhibit smaller gains due to altered protein synthesis.

Study Population: The study will enroll 24 adults with genetically confirmed FSHD, aged 18-50 years, with mild to moderate disease severity and preserved walking ability. Participants will be recruited from the University of Pavia and the Italian National FSHD Registry. A control group of 24 healthy individuals, matched for age and sex, will be recruited through institutional channels.

Study Design: This is a randomized, double-blind, placebo-controlled crossover study. The intervention duration is 15 months per participant. Due to the rarity of the disease, total study completion is anticipated within approximately 36 months. Participants with FSHD will complete two 6-month intervention phases separated by a 3-month washout period, receiving both amino acid supplementation (essential amino acid mixture) and placebo (maltodextrins) in random order. Assessments will be conducted at baseline and at the end of each intervention phase. Healthy control participants will complete a single 6-month intervention phase. Intervention and Assessments: Participants will undergo evaluations including body composition, resting metabolic rate, handgrip strength, gait analysis, cardiopulmonary fitness (VO₂max), and daily physical activity measured via accelerometry. The intervention consists of a personalized dietary plan and a home-based exercise program including moderate-intensity aerobic training and resistance exercises targeting major muscle groups. Supplementation includes two daily doses of either amino acids or placebo, administered under blinded conditions. Risks and Safety: The study involves minimal risk. Potential risks are primarily related to minor injuries associated with home-based exercise. Risk mitigation strategies include participant instruction, monitoring, and the prescription of appropriate exercise protocols.

Study Type

Interventional

Enrollment (Estimated)

48

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
    • Pavia
      • Voghera, Pavia, Italy, 27058
        • Recruiting
        • Criams Sport Medicine Centre
        • Contact:
        • Contact:
        • Sub-Investigator:
          • Oscar Crisafulli, PhD
        • Principal Investigator:
          • Giuseppe D'Antona, MD, PHD
        • Sub-Investigator:
          • Matteo Fortunati, PhD Student
        • Sub-Investigator:
          • Emanuela Lavaselli, Master in Clinical Nutrition
        • Sub-Investigator:
          • Venere Quintiero, Master in Clinical Nutrition

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

Yes

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: Randomized
  • Interventional Model: Crossover Assignment
  • Masking: Triple

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Exercise, diet and amino acids in FSHD
Effects of exercise, diet and amino acids in FSHD
Dietary supplement: Essential Amino Acids Supplementation intervention
Use of a balanced essential amino acids mixture to counteract muscle deterioration in FSHD
Behavioral: Exercise
Tailored exercise
Behavioral: Diet
Tailored balanced diet
Placebo Comparator: Exercise, diet and placebo in FSHD
Effects of exercise, diet and placebo in FSHD
Behavioral: Exercise
Tailored exercise
Behavioral: Diet
Tailored balanced diet
Other: Placebo Control
Placebo, diet and exercise in FSHD
Other: Exercise and diet in healthy control
Effects of exercise and diet in healthy control
Behavioral: Exercise
Tailored exercise
Behavioral: Diet
Tailored balanced diet

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change in fat mass in FSHD
Time Frame: 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.
From enrollment to the end of treatment at 15 months
Change in fat-free mass in FSHD
Time Frame: 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.
From enrollment to the end of treatment at 15 months
Change in aerobic capacity in FSHD
Time Frame: 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.
From enrollment to the end of treatment at 15 months
Change in muscle strength in FSHD
Time Frame: 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.
From enrollment to the end of treatment at 15 months
Change in walking performance in FSHD
Time Frame: 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.
From enrollment to the end of treatment at 15 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Pavia

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 8, 2026

Primary Completion (Estimated)

November 1, 2028

Study Completion (Estimated)

April 1, 2029

Study Registration Dates

First Submitted

April 10, 2026

First Submitted That Met QC Criteria

April 17, 2026

First Posted (Actual)

April 21, 2026

Study Record Updates

Last Update Posted (Actual)

April 21, 2026

Last Update Submitted That Met QC Criteria

April 17, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • FSH_2025, v.3.0, 07/04/2026

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Risks for misinterpretation or misuse and risk of re-identifying participants dealing with a rare disease.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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