The effect of intravenous trehalose administration in a patient with multiple sulfatase deficiency

Shabnam Radbakhsh; Moein Mobini; Eric Gumpricht; Maciej Banach; Tannaz Jamialahmadi; Amirhossein Sahebkar

doi:10.5114/aoms/159711

The effect of intravenous trehalose administration in a patient with multiple sulfatase deficiency

Arch Med Sci. 2023 Jan 23;19(5):1564-1568. doi: 10.5114/aoms/159711. eCollection 2023.

Authors

Shabnam Radbakhsh¹, Moein Mobini², Eric Gumpricht³, Maciej Banach⁴, Tannaz Jamialahmadi⁵, Amirhossein Sahebkar^{5

6}

Affiliations

¹ Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran.
² Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
³ Isagenix International LLC, Gilbert, AZ, United States.
⁴ Cardiovascular Research Centre, University of Zielona Gora, Zielona Gora, Poland.
⁵ Applied Biomedical Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
⁶ Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran.

Abstract

Introduction: We describe the case of a female child with multiple sulfatase deficiency (MSD) who received intravenous (IV) trehalose (15 g/week) for 3 months.

Methods: The efficacy of trehalose was evaluated by comparing serum biomarkers, a quality-of-life questionnaire (HRQoL), and imaging (brain MRI and ultrasonography of liver and spleen) at weeks 0 (W0) and 12 (W12).

Results: The improvement in quality of life assessments along with a slight decrease in the spleen dimensions were observed after 3-month intervention.

Conclusions: Future research with a larger MSD population and a longer-term follow-up is warranted to determine whether trehalose can improve MSD patient health and clinical outcomes.

Keywords: lysosomal storage diseases; multiple sulfatase deficiency; trehalose.