Economic Burden of Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP): A Large United States (US) Nationwide Claims Analysis
Author(s)
Maral DerSarkissian, PhD1, Chelsea Norregaard, PhD, MPH2, Hela Romdhani, PhD3, Aruna Muthukumar, MPH4, Priyanka Bobbili, MS, ScD5, Melanie Chin, PhD2, Becca Liu, MSc1, Huong Ly Trinh, MSc3, Mei Sheng Duh, MPH, ScD5;
1Analysis Group, Inc., Los Angeles, CA, USA, 2Disc Medicine, Inc., Watertown, MA, USA, 3Analysis Group, Inc., Montréal, QC, Canada, 4Analysis Group, Inc., Menlo Park, CA, USA, 5Analysis Group, Inc., Boston, MA, USA
1Analysis Group, Inc., Los Angeles, CA, USA, 2Disc Medicine, Inc., Watertown, MA, USA, 3Analysis Group, Inc., Montréal, QC, Canada, 4Analysis Group, Inc., Menlo Park, CA, USA, 5Analysis Group, Inc., Boston, MA, USA
Presentation Documents
OBJECTIVES: EPP and XLP are rare genetic disorders that cause severe pain and phototoxicity upon exposure to sunlight. This retrospective study evaluated real-world healthcare utilization (HRU) and costs among patients with EPP (inclusive of XLP) vs. controls in the US.
METHODS: EPP patients (≥2 EPP diagnosis codes, first diagnosis defined index date) and control patients (no EPP diagnosis) were identified from the Komodo Research database (2016-2023) and matched (1:4 ratio) on index date and key characteristics. Patients were required to have 6 months of continuous enrollment pre-index (baseline). Per-patient-per-year (PPPY) all-cause HRU and costs were assessed post-index and compared between cohorts using rate ratios (RRs) estimated from negative binomial regressions for HRU and cost ratios estimated from two-part linear models for costs.
RESULTS: In total, 696 patients with EPP and 2,784 matched controls were included. In both cohorts, mean age was 45.5 years, 55.0% were female and 55.0% were White. At baseline, comorbidities observed more frequently in the EPP vs control cohort included bone diseases related to vitamin D deficiency (18.4% vs 11.6%), hepatobiliary conditions (13.9% vs 4.8%), anxiety (17.8% vs 9.9%), depression (15.9% vs 8.6%), and anemia (11.2% vs 5.2%). Over a mean duration of 30 months post-index, HRU was significantly higher in the EPP vs. control cohort with mean PPPY number of inpatient stays of 0.8 vs. 0.2 (RR=3.4; p<0.001), emergency department visits of 1.5 vs. 0.9 (RR=1.7; p=0.002), and outpatient visits of 35.2 vs. 17.5 (RR=2.0; p<0.001). Similarly, costs were significantly higher in the EPP vs. control cohort with mean PPPY total cost of $71,714 vs. $18,646 (ratio=3.9; p<0.001), including total medical costs of $66,391 vs. $14,767 (ratio=4.5; p<0.001), driven by inpatient costs ($30,909 vs. $6,318; ratio=4.9; p<0.001) and outpatient costs ($33,416 vs. $7,573; ratio=4.4; p<0.001).
CONCLUSIONS: EPP imposes a substantial economic burden, underscoring significant unmet needs in this population.
METHODS: EPP patients (≥2 EPP diagnosis codes, first diagnosis defined index date) and control patients (no EPP diagnosis) were identified from the Komodo Research database (2016-2023) and matched (1:4 ratio) on index date and key characteristics. Patients were required to have 6 months of continuous enrollment pre-index (baseline). Per-patient-per-year (PPPY) all-cause HRU and costs were assessed post-index and compared between cohorts using rate ratios (RRs) estimated from negative binomial regressions for HRU and cost ratios estimated from two-part linear models for costs.
RESULTS: In total, 696 patients with EPP and 2,784 matched controls were included. In both cohorts, mean age was 45.5 years, 55.0% were female and 55.0% were White. At baseline, comorbidities observed more frequently in the EPP vs control cohort included bone diseases related to vitamin D deficiency (18.4% vs 11.6%), hepatobiliary conditions (13.9% vs 4.8%), anxiety (17.8% vs 9.9%), depression (15.9% vs 8.6%), and anemia (11.2% vs 5.2%). Over a mean duration of 30 months post-index, HRU was significantly higher in the EPP vs. control cohort with mean PPPY number of inpatient stays of 0.8 vs. 0.2 (RR=3.4; p<0.001), emergency department visits of 1.5 vs. 0.9 (RR=1.7; p=0.002), and outpatient visits of 35.2 vs. 17.5 (RR=2.0; p<0.001). Similarly, costs were significantly higher in the EPP vs. control cohort with mean PPPY total cost of $71,714 vs. $18,646 (ratio=3.9; p<0.001), including total medical costs of $66,391 vs. $14,767 (ratio=4.5; p<0.001), driven by inpatient costs ($30,909 vs. $6,318; ratio=4.9; p<0.001) and outpatient costs ($33,416 vs. $7,573; ratio=4.4; p<0.001).
CONCLUSIONS: EPP imposes a substantial economic burden, underscoring significant unmet needs in this population.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
EE279
Topic
Economic Evaluation
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies
Disease
SDC: Rare & Orphan Diseases