OBJECTIVES: This study aims to investigate the treatment accessibility for patients with rare diseases in Taiwan regarding four key aspects: rare disease, orphan drug, patient number, and treatment provision rate.

METHODS: A retrospective documentary analysis was conducted using 2022 data. Relevant numerical data was extracted from public sources, including the Health Promotion Administration (HPA) rare disease annual reports, Pharmaceutical Benefits and Reimbursement Scheme (PBRS) minutes, and Health Technology Assessment (HTA) reports from the Center for Drug Evaluation (CDE). Disease coverage rate was defined as the proportion of designated rare diseases reimbursed by National Health Insurance (NHI). Orphan drug coverage rate was examined based on the proportion of available orphan drugs to the number reimbursed. Patient coverage rate was defined as the proportion of patients with rare diseases to the number of patients indicated by the orphan drugs. Treatment provision rate was defined as the median ratio of patients utilizing orphan drug to the number of labeled patients for each rare disease, estimated only for rare diseases with available treatments. Descriptive analysis was conducted for the four indicators across the entire population, with rare diseases classified into three tiers (Tier 1, 2, and 3) based on population size.

RESULTS: The disease coverage rate was only 12%. The NHI reimbursed 75 orphan drugs, achieving a substantial 94% drug coverage rate. However, only 37% of patients accessed these treatments. The median treatment provision rate was just 0.44%.

CONCLUSIONS: This research provides a holistic review of orphan drug accessibility. Most rare diseases still lack effective medications. Despite a high drug coverage rate, accessibility remains limited, as evidenced by the extremely low treatment provision rate in 2022. It is crucial to orphan drug research and development and ensure the long-term sustainability of access within Taiwan's healthcare system.