DISEASE-SPECIFIC BURDEN AND MORTALITY OF RARE DISEASES IN THE CZECH REPUBLIC AND SLOVAKIA: REAL-WORLD EVIDENCE FROM ADMINISTRATIVE DATA
Author(s)
Radka Gromošová, MSc1, Katarína Breciková, MSc, PhD2, Juliana Grand Mullerova, MSc2, Gleb Donin, MSc, PhD1, Dominik Grega, PharmD, PhD3, Martin Visnansky, MBA, MSc, PharmD, PhD3, Ivana Šarkanová, MSc, PhD2.
1Department of Biomedical Technology, Czech Technical University in Prague, Kladno, Czech Republic, 2CEEOR, Bratislava, Slovakia, 3Faculty of Pharmacy, Masaryk University, Brno, Czech Republic.
1Department of Biomedical Technology, Czech Technical University in Prague, Kladno, Czech Republic, 2CEEOR, Bratislava, Slovakia, 3Faculty of Pharmacy, Masaryk University, Brno, Czech Republic.
OBJECTIVES: To quantify the economic burden and mortality impact of 16 predefined rare diseases, including mucopolysaccharidosis type I and II, phenylketonuria, and Fabry disease, using real-world evidence from anonymised administrative healthcare data in the Czech Republic and Slovakia.
METHODS: We conducted a retrospective observational analysis of Czech and Slovak administrative health claims data from 2017 to 2025. Patients with selected rare diseases were identified using predefined ICD-10-based algorithms. Case was defined by any of: (i) at least two outpatient records with the same diagnosis 30-365 days apart, (ii) at least one hospitalization with the diagnosis, or (iii) at least one outpatient record together with a disease‑specific treatment signal (a relevant medication or procedure). For selected diseases, additional clinical criteria were required to improve case specificity. Excess burden attributable to each disease was estimated by comparison with matched control cohorts drawn from the general population. Direct costs were estimated from claims data, and productivity losses due to premature mortality were valued using the human capital approach. All costs are expressed in 2025 euros.
RESULTS: In both Czechia and Slovakia, the economic burden of rare diseases varied substantially across therapeutic areas. Direct medical costs were the main burden driver in most disease groups, particularly metabolic, hematological, and immunological conditions, reflecting intensive healthcare utilization, treatment provision, and long-term medical management. By contrast, mortality‑related burden predominated in neurological and congenital disorders in both countries, and contributed substantially in dermatological conditions.
CONCLUSIONS: In both countries, rare diseases impose a substantial and heterogeneous burden shaped by a varying mix of direct medical costs and premature mortality, calling for disease‑specific assessment that looks beyond direct costs to guide targeted resource planning.
METHODS: We conducted a retrospective observational analysis of Czech and Slovak administrative health claims data from 2017 to 2025. Patients with selected rare diseases were identified using predefined ICD-10-based algorithms. Case was defined by any of: (i) at least two outpatient records with the same diagnosis 30-365 days apart, (ii) at least one hospitalization with the diagnosis, or (iii) at least one outpatient record together with a disease‑specific treatment signal (a relevant medication or procedure). For selected diseases, additional clinical criteria were required to improve case specificity. Excess burden attributable to each disease was estimated by comparison with matched control cohorts drawn from the general population. Direct costs were estimated from claims data, and productivity losses due to premature mortality were valued using the human capital approach. All costs are expressed in 2025 euros.
RESULTS: In both Czechia and Slovakia, the economic burden of rare diseases varied substantially across therapeutic areas. Direct medical costs were the main burden driver in most disease groups, particularly metabolic, hematological, and immunological conditions, reflecting intensive healthcare utilization, treatment provision, and long-term medical management. By contrast, mortality‑related burden predominated in neurological and congenital disorders in both countries, and contributed substantially in dermatological conditions.
CONCLUSIONS: In both countries, rare diseases impose a substantial and heterogeneous burden shaped by a varying mix of direct medical costs and premature mortality, calling for disease‑specific assessment that looks beyond direct costs to guide targeted resource planning.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
EE563
Topic
Economic Evaluation
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, Rare & Orphan Diseases