OBJECTIVES: To estimate the economic burden of propionic acidemia (PA), a rare inherited metabolic disorder, in the United States by age stratum.

METHODS: A retrospective matched cohort study was conducted using IQVIA PharMetrics^® Plus claims data (10/2015-06/2022) comparing patients with PA to patients without PA (controls). Patients were matched 1:1 within each age stratum (0-2, 3-6, 7-12, 13-17, and 18+ years) on factors including age, year, month, sex, region, and insurance. All-cause healthcare resource utilization (HRU) per patient-year (PPY) and annualized costs were described and compared between patients with and without PA within age strata.

RESULTS: This study included 191 patients with PA and their matched controls (by age stratum: 0-2 years, n=32 pairs; 3-6, n=32; 7-12, n=36; 13-17, n=24; 18+, n=106). Most patients had commercial insurance (91.1%) and half were female (49.7%). Patients with PA had significantly higher HRU rates and total costs compared to controls across age strata. Patients with PA had 0.5-2.3 hospitalizations, 0.7-1.9 emergency visits, and 15.3-41.3 outpatient visits PPY across age strata, leading to a 10.4-78.6, 2.2-4.5, and 1.9-8.2 fold higher rate compared to controls, respectively (all p<0.001). Mean (median) total healthcare costs were $88,523 ($16,929) among patients with PA, with medical costs accounting for about 68% of total costs ($60,385 [$14,674]), primarily driven by hospitalization costs ($40,621 [$3,254]). Total mean annualized cost difference was highest for patients with PA at 0-2 years vs. controls at $205,883 ($209,332 [$42,991] vs. $3,449 [$2,711]) and lowest at 7-12 years at $20,169 ($21,797 [$11,487] vs. $1,628 [$617]); adults also showed a significant difference at $75,095 ($79,336 [$21,168] vs. $4,241 [$1,437]) (all p<0.001).

CONCLUSIONS: Patients with PA had significant HRU and economic burden compared to controls without PA across age strata, primarily driven by a higher burden of hospitalization. Development of efficacious treatments for PA to help reduce the burden is needed.