FSH Muscular DystrophyNCT07543016
Amino Acids and Exercise in FSHD
A study testing Essential Amino Acids Supplementation intervention, Exercise and Diet in people with FSH Muscular Dystrophy and Muscular Dystrophy, run by University of Pavia at 1 site in Italy.
Trial 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). Read more about this study
- Who is it for?
- Ages 18 to 50 yearsHealthy volunteers can take part
- Conditions the study is for
- FSH Muscular Dystrophy, Muscular Dystrophy
- What is being tested?
- Essential Amino Acids Supplementation intervention, Exercise and Diet
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 48 participants
- Where
- 1 siteItaly
- Study dates
- 8 Apr 2026to Apr 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 50 years
- All sexes
- Healthy volunteers accepted
- Adult
Who may be able to join
- Subjects of both sexes with a diagnosis of FSHD, confirmed by genetic testing.
- Age between 18 and 50 years.
- 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.
- Clinical score ranging from 2 to 5.
- Preserved ability to walk at the time of enrollment.
- Absence of central or peripheral nervous system involvement based on neurological history and physical examination.
- Absence of scoliosis, limb contractures, and tendon retractions.
Who cannot join
- Use of beta-blocker medications;
- Psychological or psychiatric disorders;
- Musculoskeletal injuries that impair the ability to perform physical exercise;
- Recent medication adjustment, use of drugs that may affect fatigue, or use of fatigue-stimulating agents (e.g., Modafinil, amantadine);
- Ongoing participation in another clinical investigation involving a medical device or drug, or participation in such a study completed less than 30 days prior;
- Pregnant or breastfeeding women;
Show all 13Show fewer
- Patients unable to understand the purpose and conditions of the study and unable to provide informed consent;
- Presence of additional diseases that may interfere with measurements;
- Patients deprived of liberty or under legal guardianship.
- Healthy participants will be age- and sex-matched adults without neuromuscular disease:
- no chronic disease;
- no neuromuscular disorders;
- Same age range.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Criams Sport Medicine Centre
Voghera, Pavia, 27058
Guseppe D'Antona, MD, PhD, 0039038362053, giuseppe.dantona@unipv.it
Martina Rossarola, 0039038362053, infocriams@gmail.com
About this study
Official title: 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.
Read the 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.
- Conditions
- FSH Muscular Dystrophy, Muscular Dystrophy
- Being tested
- Essential Amino Acids Supplementation intervention, Exercise, Diet, Placebo Control
- Keywords
- amino acids supplementation, muscular dystrophy, amino acids, exercise, facioscapulohumeral muscular dystrophy, exercise training, nutritional supplementation
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral, Muscular Dystrophies, Motor Activity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Essential Amino Acids Supplementation interventionDietary supplement
Use of a balanced essential amino acids mixture to counteract muscle deterioration in FSHD
ExerciseBehavioural
Tailored exercise
DietBehavioural
Tailored balanced diet
Placebo ControlOther
Placebo, diet and exercise in FSHD
| Study group | Role | What they receive |
|---|---|---|
| Exercise, diet and amino acids in FSHD | Experimental | Effects of exercise, diet and amino acids in FSHD Receives: Dietary Supplement: Essential Amino Acids Supplementation intervention; Behavioral: Exercise; Behavioral: Diet |
| Exercise, diet and placebo in FSHD | Placebo comparator | Effects of exercise, diet and placebo in FSHD Receives: Behavioral: Exercise; Behavioral: Diet; Other: Placebo Control |
| Exercise and diet in healthy control | Other | Effects of exercise and diet in healthy control Receives: Behavioral: Exercise; Behavioral: Diet |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: From enrollment to the end of treatment at 15 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Apr 2026
- Study start8 Apr 2026
- Primary completionNov 2028 (estimated)
- Study completionApr 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (22)Papers the sponsor has linked to this study.
- Other trials for FSH Muscular DystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Model description
- double blind crossover
- Masking
- Triple blind
- Who is masked
- Participant, Investigator, Outcomes assessor
- Enrolment
- 48 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Pavia
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07543016
- Sponsor's protocol ID
- FSH_2025, v.3.0, 07/04/2026
- Status last verified
- Apr 2026
- First submitted
- 10 Apr 2026
- Last updated
- 21 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Risks for misinterpretation or misuse and risk of re-identifying participants dealing with a rare disease.
Publications
Verceles AC, Serra M, Davis D, Alon G, Wells CL, Parker E, Sorkin J, Bhatti W, Terrin ML. Combining exercise, protein supplementation and electric stimulation to mitigate muscle wasting and improve outcomes for survivors of critical illness-The ExPrES study. Heart Lung. 2023 Mar-Apr;58:229-235. doi: 10.1016/j.hrtlng.2022.11.013. Epub 2022 Dec 5.
PubMed 36473808Vera KA, McConville M, Kyba M, Keller-Ross ML. Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy. Front Physiol. 2020 Aug 12;11:1008. doi: 10.3389/fphys.2020.01008. eCollection 2020.
PubMed 32903446Schipper K, Bakker M, Abma T. Fatigue in facioscapulohumeral muscular dystrophy: a qualitative study of people's experiences. Disabil Rehabil. 2017 Sep;39(18):1840-1846. doi: 10.1080/09638288.2016.1212109. Epub 2016 Oct 20.
PubMed 27762634Rijken NH, van Engelen BG, de Rooy JW, Weerdesteyn V, Geurts AC. Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness. Gait Posture. 2015 Feb;41(2):476-81. doi: 10.1016/j.gaitpost.2014.11.013. Epub 2014 Dec 2.
PubMed 25687333Ricci G, Ruggiero L, Vercelli L, Sera F, Nikolic A, Govi M, Mele F, Daolio J, Angelini C, Antonini G, Berardinelli A, Bucci E, Cao M, D'Amico MC, D'Angelo G, Di Muzio A, Filosto M, Maggi L, Moggio M, Mongini T, Morandi L, Pegoraro E, Rodolico C, Santoro L, Siciliano G, Tomelleri G, Villa L, Tupler R. A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. J Neurol. 2016 Jun;263(6):1204-14. doi: 10.1007/s00415-016-8123-2. Epub 2016 Apr 28.
PubMed 27126453Prieur-Blanc N, Cotinat M, Vansteenkiste S, de Bovis Milhe V, Viton JM, Attarian S, Bensoussan L. Fitness and walking outcomes following aerobic and lower extremity strength training in facioscapulohumeral dystrophy: a case series. Int J Rehabil Res. 2024 Mar 1;47(1):41-45. doi: 10.1097/MRR.0000000000000614. Epub 2024 Jan 6.
PubMed 38323889Negro M, Perna S, Spadaccini D, Castelli L, Calanni L, Barbero M, Cescon C, Rondanelli M, D'Antona G. Effects of 12 Weeks of Essential Amino Acids (EAA)-Based Multi-Ingredient Nutritional Supplementation on Muscle Mass, Muscle Strength, Muscle Power and Fatigue in Healthy Elderly Subjects: A Randomized Controlled Double-Blind Study. J Nutr Health Aging. 2019;23(5):414-424. doi: 10.1007/s12603-019-1163-4.
PubMed 31021358Morse CI, Bostock EL, Twiss HM, Kapp LH, Orme P, Jacques MF. The cardiorespiratory response and physiological determinants of the assisted 6-minute handbike cycle test in adult males with muscular dystrophy. Muscle Nerve. 2018 Sep;58(3):427-433. doi: 10.1002/mus.26146. Epub 2018 May 17.
PubMed 29669172Migueles JH, Cadenas-Sanchez C, Ekelund U, Delisle Nystrom C, Mora-Gonzalez J, Lof M, Labayen I, Ruiz JR, Ortega FB. Accelerometer Data Collection and Processing Criteria to Assess Physical Activity and Other Outcomes: A Systematic Review and Practical Considerations. Sports Med. 2017 Sep;47(9):1821-1845. doi: 10.1007/s40279-017-0716-0.
PubMed 28303543Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R. A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score. Muscle Nerve. 2010 Aug;42(2):213-7. doi: 10.1002/mus.21671.
PubMed 20544930Gambelli CN, Bredin J, Doix AM, Garcia J, Tanant V, Fournier-Mehouas M, Desnuelle C, Sacconi S, Colson SS. The effect of tibialis anterior weakness on foot drop and toe clearance in patients with facioscapulohumeral dystrophy. Clin Biomech (Bristol). 2023 Feb;102:105899. doi: 10.1016/j.clinbiomech.2023.105899. Epub 2023 Jan 31.
PubMed 36738507Crisafulli O, Baptista R, Drid P, Grattarola L, Bottoni G, Lavaselli E, Negro M, Tupler R, Quintiero V, D'Antona G. Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study. Health Sci Rep. 2025 Jan 13;8(1):e70335. doi: 10.1002/hsr2.70335. eCollection 2025 Jan.
PubMed 39807483Jager R, Kerksick CM, Campbell BI, Cribb PJ, Wells SD, Skwiat TM, Purpura M, Ziegenfuss TN, Ferrando AA, Arent SM, Smith-Ryan AE, Stout JR, Arciero PJ, Ormsbee MJ, Taylor LW, Wilborn CD, Kalman DS, Kreider RB, Willoughby DS, Hoffman JR, Krzykowski JL, Antonio J. International Society of Sports Nutrition Position Stand: protein and exercise. J Int Soc Sports Nutr. 2017 Jun 20;14:20. doi: 10.1186/s12970-017-0177-8. eCollection 2017.
PubMed 28642676Iosa M, Mazza C, Frusciante R, Zok M, Aprile I, Ricci E, Cappozzo A. Mobility assessment of patients with facioscapulohumeral dystrophy. Clin Biomech (Bristol). 2007 Dec;22(10):1074-82. doi: 10.1016/j.clinbiomech.2007.07.013. Epub 2007 Sep 11.
PubMed 17850940De Ridder R, Lebleu J, Willems T, De Blaiser C, Detrembleur C, Roosen P. Concurrent Validity of a Commercial Wireless Trunk Triaxial Accelerometer System for Gait Analysis. J Sport Rehabil. 2019 Aug 1;28(6):jsr.2018-0295. doi: 10.1123/jsr.2018-0295.
PubMed 30747572
Study at a glance
From the registry record, last updated by the sponsor on 21 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Amino Acid Supplementation and Physical Exercise in Facioscapulohumeral Muscular Dystrophy: Effects on Body Composition and Physical Efficiency in a Model of Muscular Disease
- ClinicalTrials.gov ID
- NCT07543016
- Acronym / sponsor ID
- FSH_2025, v.3.0, 07/04/2026
- Conditions
- FSH Muscular Dystrophy, Muscular Dystrophy
- Keywords
- amino acids supplementation, muscular dystrophy, amino acids, exercise, facioscapulohumeral muscular dystrophy, exercise training, nutritional supplementation
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 48 participants (estimated)
- Lead sponsor
- University of PaviaUniversity, hospital or other
- Study start
- 8 Apr 2026 (actual)
- Primary completion
- Nov 2028 (estimated)
- Study completion
- Apr 2029 (estimated)
- First posted
- 21 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Triple blind (participant, investigator, outcomes assessor)
- Number of arms
- 3
- Model description
- double blind crossover
| Arm | Type | Receives |
|---|---|---|
| Exercise, diet and amino acids in FSHD | Experimental | Dietary Supplement: Essential Amino Acids Supplementation intervention, Behavioral: Exercise, Behavioral: DietEffects of exercise, diet and amino acids in FSHD |
| Exercise, diet and placebo in FSHD | Placebo comparator | Behavioral: Exercise, Behavioral: Diet, Other: Placebo ControlEffects of exercise, diet and placebo in FSHD |
| Exercise and diet in healthy control | Other | Behavioral: Exercise, Behavioral: DietEffects of exercise and diet in healthy control |
Who may qualify
- Ages
- 18 to 50 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
Key inclusion criteria (7 listed)
- Subjects of both sexes with a diagnosis of FSHD, confirmed by genetic testing.
- Age between 18 and 50 years.
- 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.
- Clinical score ranging from 2 to 5.
- Preserved ability to walk at the time of enrollment.
Key exclusion criteria (13 listed)
- Use of beta-blocker medications;
- Psychological or psychiatric disorders;
- Musculoskeletal injuries that impair the ability to perform physical exercise;
- Recent medication adjustment, use of drugs that may affect fatigue, or use of fatigue-stimulating agents (e.g., Modafinil, amantadine);
- Ongoing participation in another clinical investigation involving a medical device or drug, or participation in such a study completed less than 30 days prior;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Essential Amino Acids Supplementation interventionUse of a balanced essential amino acids mixture to counteract muscle deterioration in FSHD | Dietary supplement | Exercise, diet and amino acids in FSHD |
| ExerciseTailored exercise | Behavioural | Exercise and diet in healthy control, Exercise, diet and amino acids in FSHD, Exercise, diet and placebo in FSHD |
| DietTailored balanced diet | Behavioural | Exercise and diet in healthy control, Exercise, diet and amino acids in FSHD, Exercise, diet and placebo in FSHD |
| Placebo ControlPlacebo, diet and exercise in FSHD | Other | Exercise, diet and placebo in FSHD |
Primary outcome
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.
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.
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.
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.
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Apr 2026.
- Background: PubMed 36473808Verceles AC, Serra M, Davis D, Alon G, Wells CL, Parker E, Sorkin J, Bhatti W, Terrin ML. Combining exercise, protein supplementation and electric stimulation to mitigate muscle wasting and improve outcomes for survivors of critical illness-The ExPrES study. Heart Lung. 2023 Mar-Apr;58:229-235. doi: 10.1016/j.hrtlng.2022.11.013. Epub 2022 Dec 5.
- Background: PubMed 32903446Vera KA, McConville M, Kyba M, Keller-Ross ML. Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy. Front Physiol. 2020 Aug 12;11:1008. doi: 10.3389/fphys.2020.01008. eCollection 2020.
- Background: PubMed 27762634Schipper K, Bakker M, Abma T. Fatigue in facioscapulohumeral muscular dystrophy: a qualitative study of people's experiences. Disabil Rehabil. 2017 Sep;39(18):1840-1846. doi: 10.1080/09638288.2016.1212109. Epub 2016 Oct 20.
- Background: PubMed 25687333Rijken NH, van Engelen BG, de Rooy JW, Weerdesteyn V, Geurts AC. Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness. Gait Posture. 2015 Feb;41(2):476-81. doi: 10.1016/j.gaitpost.2014.11.013. Epub 2014 Dec 2.
- Background: PubMed 27126453Ricci G, Ruggiero L, Vercelli L, Sera F, Nikolic A, Govi M, Mele F, Daolio J, Angelini C, Antonini G, Berardinelli A, Bucci E, Cao M, D'Amico MC, D'Angelo G, Di Muzio A, Filosto M, Maggi L, Moggio M, Mongini T, Morandi L, Pegoraro E, Rodolico C, Santoro L, Siciliano G, Tomelleri G, Villa L, Tupler R. A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. J Neurol. 2016 Jun;263(6):1204-14. doi: 10.1007/s00415-016-8123-2. Epub 2016 Apr 28.
- Background: PubMed 38323889Prieur-Blanc N, Cotinat M, Vansteenkiste S, de Bovis Milhe V, Viton JM, Attarian S, Bensoussan L. Fitness and walking outcomes following aerobic and lower extremity strength training in facioscapulohumeral dystrophy: a case series. Int J Rehabil Res. 2024 Mar 1;47(1):41-45. doi: 10.1097/MRR.0000000000000614. Epub 2024 Jan 6.
- Background: PubMed 31021358Negro M, Perna S, Spadaccini D, Castelli L, Calanni L, Barbero M, Cescon C, Rondanelli M, D'Antona G. Effects of 12 Weeks of Essential Amino Acids (EAA)-Based Multi-Ingredient Nutritional Supplementation on Muscle Mass, Muscle Strength, Muscle Power and Fatigue in Healthy Elderly Subjects: A Randomized Controlled Double-Blind Study. J Nutr Health Aging. 2019;23(5):414-424. doi: 10.1007/s12603-019-1163-4.
- Background: PubMed 29669172Morse CI, Bostock EL, Twiss HM, Kapp LH, Orme P, Jacques MF. The cardiorespiratory response and physiological determinants of the assisted 6-minute handbike cycle test in adult males with muscular dystrophy. Muscle Nerve. 2018 Sep;58(3):427-433. doi: 10.1002/mus.26146. Epub 2018 May 17.
- Background: PubMed 28303543Migueles JH, Cadenas-Sanchez C, Ekelund U, Delisle Nystrom C, Mora-Gonzalez J, Lof M, Labayen I, Ruiz JR, Ortega FB. Accelerometer Data Collection and Processing Criteria to Assess Physical Activity and Other Outcomes: A Systematic Review and Practical Considerations. Sports Med. 2017 Sep;47(9):1821-1845. doi: 10.1007/s40279-017-0716-0.
- Background: PubMed 20544930Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R. A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score. Muscle Nerve. 2010 Aug;42(2):213-7. doi: 10.1002/mus.21671.
- Background: PubMed 36738507Gambelli CN, Bredin J, Doix AM, Garcia J, Tanant V, Fournier-Mehouas M, Desnuelle C, Sacconi S, Colson SS. The effect of tibialis anterior weakness on foot drop and toe clearance in patients with facioscapulohumeral dystrophy. Clin Biomech (Bristol). 2023 Feb;102:105899. doi: 10.1016/j.clinbiomech.2023.105899. Epub 2023 Jan 31.
- Background: PubMed 39807483Crisafulli O, Baptista R, Drid P, Grattarola L, Bottoni G, Lavaselli E, Negro M, Tupler R, Quintiero V, D'Antona G. Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study. Health Sci Rep. 2025 Jan 13;8(1):e70335. doi: 10.1002/hsr2.70335. eCollection 2025 Jan.
- Individual participant dataSharing planned: No. Risks for misinterpretation or misuse and risk of re-identifying participants dealing with a rare disease.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Essential Amino Acids Supplementation intervention, Exercise and Diet in people with FSH Muscular Dystrophy and Muscular Dystrophy, run by University of Pavia at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 21 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact giuseppe D'Antona, MD, PhD (+39 0383 62053, giuseppe.dantona@unipv.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in fat mass in FSHD (time frame: From enrollment to the end of treatment at 15 months). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07543016, which also lists 22 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Apr 2026.