Effects of Trehalose Administration in Patients with Mucopolysaccharidosis Type III

  • Authors: Mobini M.1, Radbakhsh S.2, Kubaski F.3, Eshraghi P.4, Vakili S.5, Vakili R.5, Abbasifard M.6, Jamialahmadi T.7, Rajabi O.8, Emami S.9, Tayarani-Najaran Z.10, Rizzo M.11, Eid A.12, Banach M.13, Sahebkar A.14
  • Affiliations:
    1. Faculty of Medicine, Mashhad University of Medical Sciences
    2. Student Research Committee, Mashhad University of Medical Sciences
    3. Department of Genetics, UFRGS, Porto Alegre
    4. Department of Pediatric Diseases, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences
    5. Medical Genetic Research Center, Mashhad University of Medical Sciences
    6. Immunology of Infectious Diseases Research Center, Research Institute of Basic Medical Sciences, afsanjan University of Medical Sciences
    7. Surgical Oncology Research Center, Mashhad University of Medical Sciences
    8. Department of Pharmaceutical and Food Control, School of Pharmacy, Mashhad University of Medical Sciences
    9. Department of Traditional Pharmacy, School of Pharmacy, Mashhad University of Medical Sciences
    10. Medical Toxicology Research Center, Mashhad University of Medical Sciences
    11. Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (Promise), School of Medicine, University of Palermo
    12. Department of Basic Medical Sciences, College of Medicine, QU Health, Qatar University
    13. Department of Preventive Cardiology and Lipidology, Medical University of Lodz
    14. Applied Biomedical Research Center, Mashhad University of Medical Sciences
  • Issue: Vol 31, No 20 (2024)
  • Pages: 3033-3042
  • Section: Anti-Infectives and Infectious Diseases
  • URL: https://rjpbr.com/0929-8673/article/view/645216
  • DOI: https://doi.org/10.2174/0929867330666230406102555
  • ID: 645216

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Full Text

Abstract

Background and Aim:Mucopolysaccharidosis type III (MPS III) is a rare autosomal recessive lysosomal storage disease (LSD) caused by a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans (GAGs), mainly in the central nervous system. Trehalose has been proposed as a potential therapeutic agent to attenuate neuropathology in MPS III. We conducted a single- arm, open-label study to evaluate the efficacy of trehalose treatment in patients with MPS IIIA and MPS IIIB.

Methods:Five patients with MPS III were enrolled. Trehalose was administrated intravenously (15 g/week) for 12 weeks. Health-related quality of life and cognitive function, serum biomarkers, liver, spleen, and lung imaging were assessed to evaluate trehalose efficacy at baseline and trial end (week 12).

Results:TNO-AZL Preschool children Quality of Life (TAPQOL) scores increased in all patients, and the mean scores for quality of life were increased after the intervention. Serum GAG levels were reduced in all treated patients (however, the differences were not statistically significant). Alanine aminotransferase (ALT) levels were reduced in all patients post-treatment (p=0.0039). The mean levels of aspartate transaminase (AST) were also decreased after 12 weeks of treatment with Trehalose. Decreased serum pro-oxidant-antioxidant balance and increased GPX activity were observed at the end of the study. Decreases in mean splenic length were observed, whereas the liver volume did not change.

Conclusion:Improvements in health-related quality of life and serum biomarkers (GAGs, liver aminotransferase levels, antioxidant status), as well as liver and spleen size, were found following 3 months of trehalose administration in patients with MPS IIIA and MPS IIIB.

About the authors

Moein Mobini

Faculty of Medicine, Mashhad University of Medical Sciences

Email: info@benthamscience.net

Shabnam Radbakhsh

Student Research Committee, Mashhad University of Medical Sciences

Email: info@benthamscience.net

Francyne Kubaski

Department of Genetics, UFRGS, Porto Alegre

Email: info@benthamscience.net

Peyman Eshraghi

Department of Pediatric Diseases, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences

Email: info@benthamscience.net

Saba Vakili

Medical Genetic Research Center, Mashhad University of Medical Sciences

Email: info@benthamscience.net

Rahim Vakili

Medical Genetic Research Center, Mashhad University of Medical Sciences

Email: info@benthamscience.net

Mitra Abbasifard

Immunology of Infectious Diseases Research Center, Research Institute of Basic Medical Sciences, afsanjan University of Medical Sciences

Email: info@benthamscience.net

Tannaz Jamialahmadi

Surgical Oncology Research Center, Mashhad University of Medical Sciences

Email: info@benthamscience.net

Omid Rajabi

Department of Pharmaceutical and Food Control, School of Pharmacy, Mashhad University of Medical Sciences

Email: info@benthamscience.net

Seyed Emami

Department of Traditional Pharmacy, School of Pharmacy, Mashhad University of Medical Sciences

Email: info@benthamscience.net

Zahra Tayarani-Najaran

Medical Toxicology Research Center, Mashhad University of Medical Sciences

Email: info@benthamscience.net

Manfredi Rizzo

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (Promise), School of Medicine, University of Palermo

Email: info@benthamscience.net

Ali Eid

Department of Basic Medical Sciences, College of Medicine, QU Health, Qatar University

Email: info@benthamscience.net

Maciej Banach

Department of Preventive Cardiology and Lipidology, Medical University of Lodz

Email: info@benthamscience.net

Amirhossein Sahebkar

Applied Biomedical Research Center, Mashhad University of Medical Sciences

Author for correspondence.
Email: info@benthamscience.net

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