An interventional study of Essential Amino Acids Supplementation intervention and Exercise in FSH Muscular Dystrophy and Muscular Dystrophy, sponsored by University of Pavia. Recruiting at 1 site in Italy. Open to participants aged 18 Years to 50 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-04-21.
Sponsored by University of Pavia · Not applicable, Interventional, and Treatment
Among 13 studies in Muscular Dystrophy, Facioscapulohumeral with a site in Italy — 6 open to participants now, 7 under way, 1 of them phase 3. Muscular Dystrophy, Facioscapulohumeral · Italy.
Among the 13 studies in Muscular Dystrophy, Facioscapulohumeral with a site in Italy, this one is the 6th largest by planned enrollment of the 11 interventional ones, is the only one that started in 2026, is one of 3 with no phase, and was the 13th registered.
79 studies on the registry are indexed under Muscular Dystrophy, Facioscapulohumeral; 26 are open to participants now.
This study's planned enrollment of 48 is close to the median of 48 across 49 interventional studies indexed under Muscular Dystrophy, Facioscapulohumeral.
Browse Muscular Dystrophy, Facioscapulohumeral studies →6 of the 13 studies in Muscular Dystrophy, Facioscapulohumeral with a site in Italy are open now, in 12 countries. Each count lists the studies.
Of the 19 Muscular Dystrophy, Facioscapulohumeral studies recruiting now, 9 (47%) set no upper age limit and 9 (47%) stop at 75 or younger; 10 take children under 18; 6 take healthy volunteers.
This study: 18 Years to 50 Years · all sexes · healthy volunteers too.
The full table on the hub →13 studies; the count open now beside each. This study's row is marked.
First in 2014; this study’s year is marked. 1 started in 2026.
Median enrollment 48 across the 11 interventional studies, 182 across the 2 observational. Of the 6 that completed or were terminated, 5 (83%) have results posted.
8 of 13 have an industry lead sponsor. The 10 most frequent:
University of Pavia is the lead sponsor of 144 studies on the registry; 39 are open to participants now.
University of Pavia has 1 study filed under Muscular Dystrophy, Facioscapulohumeral — fewer than ten, so there is no comparison to draw.
None of the studies under way reaches primary completion within a year.
Among the 13 studies in Muscular Dystrophy, Facioscapulohumeral with a site in Italy, from their registry updates:
Nothing recorded among them since 2026-09-25.
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.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Healthy participants will be age- and sex-matched adults without neuromuscular disease:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Effects of exercise, diet and amino acids in FSHD
Dietary Supplement: Essential Amino Acids Supplementation intervention · Behavioral: Exercise · Behavioral: Diet
Effects of exercise, diet and placebo in FSHD
Behavioral: Exercise · Behavioral: Diet · Other: Placebo Control
Effects of exercise and diet in healthy control
Behavioral: Exercise · Behavioral: Diet
Use of a balanced essential amino acids mixture to counteract muscle deterioration in FSHD
Tailored exercise
Tailored balanced diet
Placebo, diet and exercise in FSHD
Change in fat mass in FSHD
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.
Time frame: From enrollment to the end of treatment at 15 months
Change in fat-free mass in FSHD
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.
Time frame: From enrollment to the end of treatment at 15 months
Change in aerobic capacity in FSHD
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.
Time frame: From enrollment to the end of treatment at 15 months
Change in muscle strength in FSHD
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.
Time frame: From enrollment to the end of treatment at 15 months
Change in walking performance in FSHD
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.
Time frame: From enrollment to the end of treatment at 15 months
Plan to share: No — Risks for misinterpretation or misuse and risk of re-identifying participants dealing with a rare disease.
Started Apr 2026 (actual). Primary completion is estimated for Nov 2028, 31 months after the start.
Of 19 interventional studies with no phase under Muscular Dystrophy, Facioscapulohumeral, half reached primary completion within 21 months of starting (the median), counting those still running; a quarter within 13 and three quarters within 39. This study's planned 31 months is above that.
How these figures are worked out, and which studies are left out of them.
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Muscular Dystrophy, Facioscapulohumeral →