Amino Acids and Exercise in FSHD

NCT07543016 | Recruiting

• 1 other identifier: FSH_2025, v.3.0, 07/04/2026
• Study Type: interventional
• Target: 48
• Locations: 1 country
• Sites: 1

Brief 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). The study also compares responses to the intervention between individuals with FSHD and healthy individuals matched for age and sex.

Conditions

FSH Muscular Dystrophy; Muscular Dystrophy

Keywords

amino acids supplementation; muscular dystrophy; amino acids; exercise; facioscapulohumeral muscular dystrophy; exercise training; nutritional supplementation

Outcome Measures

Primary Outcomes (5)

• 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.

  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.

  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.

  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.

  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.

  From enrollment to the end of treatment at 15 months

Study Arms (3)

Exercise, diet and amino acids in FSHD

EXPERIMENTAL

Effects of exercise, diet and amino acids in FSHD

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

Behavioral: Exercise; Behavioral: Diet; Other: Placebo Control

Exercise and diet in healthy control

OTHER

Effects of exercise and diet in healthy control

Behavioral: Exercise; Behavioral: Diet

Interventions

Essential Amino Acids Supplementation intervention DIETARY_SUPPLEMENT

Use of a balanced essential amino acids mixture to counteract muscle deterioration in FSHD

Exercise, diet and amino acids in FSHD

Exercise BEHAVIORAL

Tailored exercise

Exercise and diet in healthy control; Exercise, diet and amino acids in FSHD; Exercise, diet and placebo in FSHD

Diet BEHAVIORAL

Tailored balanced diet

Exercise and diet in healthy control; Exercise, diet and amino acids in FSHD; Exercise, diet and placebo in FSHD

Placebo Control OTHER

Placebo, diet and exercise in FSHD

Exercise, diet and placebo in FSHD

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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;
• 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.

Sponsors & Collaborators

• University of Pavia: lead

Study Sites (1)

Criams Sport Medicine Centre

Voghera, Pavia, 27058, Italy

RECRUITING

Related Publications (22)

• 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.

  PMID: 36473808 BACKGROUND

• Vera 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.

  PMID: 32903446 BACKGROUND

• Schipper 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.

  PMID: 27762634 BACKGROUND

• Rijken 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.

  PMID: 25687333 BACKGROUND

• Ricci 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.

  PMID: 27126453 BACKGROUND

• Prieur-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.

  PMID: 38323889 BACKGROUND

• Negro 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.

  PMID: 31021358 BACKGROUND

• Morse 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.

  PMID: 29669172 BACKGROUND

• Migueles 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.

  PMID: 28303543 BACKGROUND

• Lamperti 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.

  PMID: 20544930 BACKGROUND

• Gambelli 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.

  PMID: 36738507 BACKGROUND

• Crisafulli 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.

  PMID: 39807483 BACKGROUND

• Jager 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.

  PMID: 28642676 BACKGROUND

• Iosa 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.

  PMID: 17850940 BACKGROUND

• De 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.

  PMID: 30747572 BACKGROUND

• Crisafulli O, Lacetera J, Bottoni G, Berardinelli A, Grattarola L, Veltroni M, Acquadro S, Negro M, Lavaselli E, D'Antona G. Case report: A creatine kinase-borg scale values-based approach to tailor physical training in a central core myopathy patient. Front Physiol. 2024 Jul 23;15:1404657. doi: 10.3389/fphys.2024.1404657. eCollection 2024.

  PMID: 39108538 BACKGROUND

• Crisafulli O, Grattarola L, Bottoni G, Lacetera J, Lavaselli E, Beretta-Piccoli M, Tupler R, Soldini E, D'Antona G. Maximal Oxygen Consumption Is Negatively Associated with Fat Mass in Facioscapulohumeral Dystrophy. Int J Environ Res Public Health. 2024 Jul 26;21(8):979. doi: 10.3390/ijerph21080979.

  PMID: 39200589 BACKGROUND

• Crisafulli O, Bottoni G, Lacetera J, Fassio F, Grattarola L, Lavaselli E, Giovanetti G, Tupler R, Negro M, D'Antona G. Bioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy. Eur J Appl Physiol. 2025 Jan;125(1):157-165. doi: 10.1007/s00421-024-05581-5. Epub 2024 Aug 21.

  PMID: 39168898 BACKGROUND

• Church DD, Hirsch KR, Park S, Kim IY, Gwin JA, Pasiakos SM, Wolfe RR, Ferrando AA. Essential Amino Acids and Protein Synthesis: Insights into Maximizing the Muscle and Whole-Body Response to Feeding. Nutrients. 2020 Dec 2;12(12):3717. doi: 10.3390/nu12123717.

  PMID: 33276485 BACKGROUND

• Bird SP, Nienhuis M, Biagioli B, De Pauw K, Meeusen R. Supplementation Strategies for Strength and Power Athletes: Carbohydrate, Protein, and Amino Acid Ingestion. Nutrients. 2024 Jun 14;16(12):1886. doi: 10.3390/nu16121886.

  PMID: 38931241 BACKGROUND

• Bankole LC, Millet GY, Temesi J, Bachasson D, Ravelojaona M, Wuyam B, Verges S, Ponsot E, Antoine JC, Kadi F, Feasson L. Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy: A randomized controlled trial. Medicine (Baltimore). 2016 Aug;95(31):e4497. doi: 10.1097/MD.0000000000004497.

  PMID: 27495097 BACKGROUND

• Alphonsa S, Wuebbles R, Jones T, Pavilionis P, Murray N. Spatio-temporal gait differences in facioscapulohumeral muscular dystrophy during single and dual task overground walking - A pilot study. J Clin Transl Res. 2022 Mar 19;8(2):166-175. eCollection 2022 Apr 29.

  PMID: 35734417 BACKGROUND

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral; Muscular Dystrophies; Motor Activity

Interventions

Exercise; Diet

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Behavior

Intervention Hierarchy (Ancestors)

Motor Activity; Movement; Musculoskeletal Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena; Nutritional Physiological Phenomena; Diet, Food, and Nutrition; Physiological Phenomena

Central Study Contacts

giuseppe D'Antona, MD, PhD

CONTACT

+39 0383 62053; giuseppe.dantona@unipv.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: TRIPLE
• Who Masked: PARTICIPANT, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: double blind crossover

Study Record Dates

• First Submitted: April 10, 2026
• First Posted: April 21, 2026
• Study Start: April 8, 2026
• Primary Completion (Estimated): November 1, 2028
• Study Completion (Estimated): April 1, 2029
• Last Updated: April 21, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)