RARE BUT COSTLY: PREVALENCE AND DIRECT MEDICAL COSTS OF 15 RARE DISEASES AMONG DAMAN BENEFICIARIES IN SAUDI ARABIA
Author(s)
Nada Ahmed Alagil, BA, RPh1, Shabab AlGhamdi, MD1, Ahmed Aljedai, MBA, PharmD2, Mohammed Aljumah, Proffessor of Neurology3, Mirna Matni, PhD4, Youmna Bassil, PharmD4, Ibrahim Abdulrahman Aljuffali, PhD1.
1Council of Health Insurance (CHI), Riyadh, Saudi Arabia, 2Alfaisal University, RIYADH, Saudi Arabia, 3Itkan Consulting Group, Riyadh, Saudi Arabia, 4Center of Clinical, Health Economics, and Outcomes Research, Dubai, United Arab Emirates.
1Council of Health Insurance (CHI), Riyadh, Saudi Arabia, 2Alfaisal University, RIYADH, Saudi Arabia, 3Itkan Consulting Group, Riyadh, Saudi Arabia, 4Center of Clinical, Health Economics, and Outcomes Research, Dubai, United Arab Emirates.
OBJECTIVES: Rare disease care in Saudi Arabia is a growing national priority. This study aimed to estimate the prevalence and direct medical costs of selected rare diseases among insured individuals in Saudi Arabia (Daman beneficiaries) using the National Platform for Health Insurance Services (NPHIES).
METHODS: Rare diseases were identified using ICD-10-AM diagnosis codes mapped to Orphanet entities (2,044 mapped codes). Malignant conditions and diseases with prevalence exceeding 5 per 10,000 insured individuals were excluded, consistent with the international definition of rare disease. Diseases were prioritized based on prevalence, total medication expenditure and medication expenditure per patient using NPHIES claims data from August 2024 to July 2025. Conditions ranking highly across at least two metrics underwent clinical validation and assessment of treatment relevance, resulting in the selection of 15 prioritized rare diseases. Annual direct medical expenditures were obtained for each prioritized condition, with costs stratified by care setting (inpatient and outpatient) and service category.
RESULTS: The NPHIES database captured 13.55 million insured individuals between August 2024 and July 2025, of whom 8,001 patients had at least one of 15 prioritized rare diseases (mean age: 35.1 years). Despite collectively representing only 0.05% of the insured population, these conditions accounted for a disproportionate 0.23% of total healthcare expenditures, with medications as the primary cost driver (64.3%) and outpatient dominance (67%). Polycythemia vera was the most prevalent condition (0.0195%) and pyruvate metabolism disorders the least (0.0001%). Hemophilia A imposed the highest per-patient costs, comprising 30.2% of total rare disease spending, followed by Guillain-Barré syndrome (12.67%) and beta thalassemia (11.8%).
CONCLUSIONS: These findings support the development of targeted reimbursement and coverage pathways for the high-cost rare diseases, as well as the establishment of a national rare disease registry linked to NPHIES claims data to inform evidence-based policy and resource allocation.
METHODS: Rare diseases were identified using ICD-10-AM diagnosis codes mapped to Orphanet entities (2,044 mapped codes). Malignant conditions and diseases with prevalence exceeding 5 per 10,000 insured individuals were excluded, consistent with the international definition of rare disease. Diseases were prioritized based on prevalence, total medication expenditure and medication expenditure per patient using NPHIES claims data from August 2024 to July 2025. Conditions ranking highly across at least two metrics underwent clinical validation and assessment of treatment relevance, resulting in the selection of 15 prioritized rare diseases. Annual direct medical expenditures were obtained for each prioritized condition, with costs stratified by care setting (inpatient and outpatient) and service category.
RESULTS: The NPHIES database captured 13.55 million insured individuals between August 2024 and July 2025, of whom 8,001 patients had at least one of 15 prioritized rare diseases (mean age: 35.1 years). Despite collectively representing only 0.05% of the insured population, these conditions accounted for a disproportionate 0.23% of total healthcare expenditures, with medications as the primary cost driver (64.3%) and outpatient dominance (67%). Polycythemia vera was the most prevalent condition (0.0195%) and pyruvate metabolism disorders the least (0.0001%). Hemophilia A imposed the highest per-patient costs, comprising 30.2% of total rare disease spending, followed by Guillain-Barré syndrome (12.67%) and beta thalassemia (11.8%).
CONCLUSIONS: These findings support the development of targeted reimbursement and coverage pathways for the high-cost rare diseases, as well as the establishment of a national rare disease registry linked to NPHIES claims data to inform evidence-based policy and resource allocation.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
HPR138
Topic
Health Policy & Regulatory, Real World Data & Information Systems
Disease
Rare & Orphan Diseases