Title:Effects of Trehalose Administration in Patients with
Mucopolysaccharidosis Type III
Volume: 31
Issue: 20
Author(s): Moein Mobini, Shabnam Radbakhsh, Francyne Kubaski, Peyman Eshraghi, Saba Vakili, Rahim Vakili, Mitra Abbasifard, Tannaz Jamialahmadi, Omid Rajabi, Seyed Ahmad Emami, Zahra Tayarani-Najaran, Manfredi Rizzo, Ali H. Eid, Maciej Banach and Amirhossein Sahebkar*
Affiliation:
- Applied Biomedical Research Center, Mashhad University of Medical Sciences, Mashhad,
Iran
- Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University
of Medical Sciences, Mashhad, Iran
- Department of Biotechnology, School of Pharmacy, Mashhad University of Medical Sciences, Mashhad,
Iran
Keywords:
Lysosomal storage disease (LSD), mucopolysaccharidosis IIIA, mucopolysaccharidosis IIIB, sanfilippo syndrome, trehalose, aspartate transaminase (AST).
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.
