OBJECTIVES : Mucopolysaccharidosis (MPS) are rare genetic disorders characterized by intracellular accumulation of glycosaminoglycans (GAGs) due to defective or deficient lysosomal enzyme. Given the severity and morbidity of the condition, the direct and indirect costs associated with the management of the condition exerts a significant economic burden on those living with MPS.

METHODS : A systematic literature review was conducted using MEDLINE, EMBASE, and hand search to determine the global economic burden of MPS. Eligible observational studies or clinical trials reporting on direct and indirect costs, and resource utilization among individuals with MPS were included.

RESULTS : This SLR included 10 studies. Cost data was reported for MPS I (n=3), MPS II (n=4), MPS III (n=1), MPS VI (n=1), MPS I, II, VI combined (n=1), and all MPS (i.e., subtype unspecified; n=1) populations. Reporting of costing categories differed across studies with direct costs being the main cost drivers. Studies captured direct costs associated with drugs (n=5), inpatient and outpatient services (n=8), emergency visits (n=1), nursing services (n=1), and surgery (n=1). Main indirect costs were caregiver (n=2), transportation (n=1), and productivity loss (n=1). Resource utilization was reported for MPS I (n=3), MPS II (n=2), MPS III (n=1), and for MPS I, II, VI combined (n=1). Inpatient resource utilization was the highest among MPS III patients receiving hospital care (117 hospital stays/year). Diagnostic services were the most predominantly utilized outpatient resource, particularly among the MPS I, MPS II and MPS VI combined population (median: 13 patients/year). Across all studies, resource utilization was higher in MPS II compared to other subtypes.

CONCLUSIONS : The findings of the study illustrate the existing but limited understanding of the economic burden of MPS. Healthcare utilization and cost incurred among MPS IV, VII, and IX populations were not identified. Further studies are needed to assess the global economic burden of MPS.