Background and aims: Patients with acute intermittent porphyria (AIP) may suffer from acute nonspecific attacks that often result in hospitalizations or emergency room (ER) visits. Prior to the recent approval of givosiran (November 2019), hemin was the only FDA-approved therapy for AIP attacks in the US. Our aim was to estimate the annual healthcare utilization and expenditures for AIP patients treated with hemin using real-world data. Methods: Patients with !1 hemin claim and confirmed AIP diagnosis -1 inpatient claim or 2 outpatient claims !30 d apart for AIP (2015)(2016)(2017) or acute porphyria (prior to 2015)were identified in MarketScan administrative claims dataset between 2007 and 2017. Continuous enrolment for !6 months from confirmed diagnosis was required. A secondary analysis ("active disease population") limited the sample to adult patients with !3 attacks or 10 months of prophylactic use of hemin within a 12-month pre-index period. AIP-related care was defined by hemin use during an attack (daily glucose and/or hemin use) or prophylaxis (non-attack hemin use). Outcomes were annualized and expenditures were inflated to 2017. Results: Across 10 years, patients with a confirmed AIP diagnosis (N ¼ 8,877) and !1 hemin claim (N ¼ 164) were restricted by !6 months continuous follow-up (N ¼ 139). AIP patients were mostly female (N ¼ 112; 81%), had median age of 40 and 3 years average follow-up. Annualized average total expenditures for AIP-related care were $113,477. Annualized average all-cause (any diagnosis) hospitalizations were statistically significantly lower for patients treated with hemin prophylaxis vs. acute treatment (1.0 vs. 2.1; p < .001). In the secondary analysis (N ¼ 27), annualized average total expenditures for AIP-related care were higher ($187,480). Conclusions: For AIP patients treated with hemin, patients treated for acute attacks may use a greater number of resources compared to patients treated prophylactically.

Objectives: Approximately two-thirds of patients with the rare lysosomal storage disease mucopolysaccharidosis II (MPS II; Hunter syndrome) are affected by cognitive impairment (CI). We aimed to characterize clinical features and healthcare resource utilization in patients with MPS II with or without CI. Methods: Patients diagnosed with MPS II between 1997 and 2017 were assessed in a retrospective medical chart review at 19 US sites. CI status was determined based on whether cognitive delay was ever documented in the patient's chart. Clinical characteristics and resource utilization were summarized for patients with or without CI. Results: Overall, 140 male patients (18 deceased) were included. CI was reported in 87 patients (62.1%) at any time during the study; 79.3% of patients with CI and 75.0% of those without CI had received enzyme replacement therapy. Among patients with CI, 55.2% had first documentation of CI before age 6 years and 37.9% had first documentation between ages 6 and 11. Somatic symptom burden was high for patients with and without CI; however, those with CI were generally younger at first documentation of symptoms. Developmental delays occurred more frequently in patients with CI than in those without: communication, 94.3% versus 30.2%; toileting, 71.3% versus 15.1%; motor, 58.6% versus 24.5%. Resource utilization (at least one instance between birth and last visit; n=75 patients with CI and n=48 without) was higher in patients with CI than in those without: hospitalization, 58.7% versus 39.6%; emergency room visits, 74.7% versus 33.3%, supportive services, 84.0% versus 58.3%. Conclusions: Patients with MPS II and CI experience a high symptom burden, with earlier documentation of symptoms and more frequent developmental delays than patients without CI. Higher healthcare resource utilization was reported for patients with CI than those without CI. Shire (a Takeda company) funded this study and writing support.