LAUSR

OBJECTIVE: Severe mucopolysaccharidosis (MPS) Type I (or Hurler syndrome) is a rare recessive genetic disorder caused by an enzyme deficiency. Without treatment (hematopoietic stem cell transplant and/or enzyme replacement therapy), children experience significant, rapid physical and cognitive decline and premature death. The purpose of this study was to assess utilization and costs of outpatient healthcare services in the US using a retrospective claims database. METHODS: The data source was Symphony Health Integrated Dataverse (IDV), a longitudinal database representing roughly 85% of the US population. All de-identified medical and pharmacy claims data from January 2012−June 2017 were included among patients <18 years of age with at least 12 continuous months of coverage and at least two target diagnosis codes (ICD10 E76.01) within a 3-month period. Birth date was estimated using year of birth + July 1. Facility costs were not included in the database, and thus this analysis was limited to outpatient professional, imaging, lab, and medication reimbursements. Total paid amounts (by payer, patient, or both) were adjusted to 2017 using 3% per annum to calculate cost per patient per month (PPPM). RESULTS: A total of 314 patients were included in the analysis: mean age was 9 years (std = 5), 64% were male, and patients resided in 45 states. A total of $12,150 PPPM was paid for outpatient healthcare services and prescriptions, including $279 for imaging, $542 for laboratory, $487 for injectables other than enzyme replacement therapy (ERT), and $1,856 for outpatient provider services not related to surgical procedures. Of the 314 individuals, 289 had 12+ months of continuous retails pharmacy claims. Pharmacy costs other than for ERT totaled $244 PPPM. ERT in any setting cost $8,357 PPPM. CONCLUSIONS: This analysis demonstrates that children with severe MPS I incur substantial outpatient direct medical costs. Because this analysis was limited to non-surgical outpatient costs, further studies are needed that include inpatient hospital and outpatient surgical costs. Results (Continued)