The Effect of Intravenous Trehalose Administration in a Patient with Multiple Sulfatase Deficiency: A Case Study

IntroductionWe describe the case of a female child with MSD who received intravenous (IV) trehalose (15 g/week) for three months.Material and methodsThe 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).ResultsThe improvement in quality of life assessments along with a slight decrease in the spleen dimensions were observed after three months intervention.ConclusionsFuture research with a larger MSD population and a longer-term follow-up is warranted to determine the if trehalose can improve MSD patient health and clinical outcomes.