OBJECTIVES: The analysis aims to evaluate drugs for rare diseases under approval in Europe, estimating their national approval through the definition of an expenditure predictive model.

METHODS: The predictive economic model was developed in Microsoft Excel®. A three-year time-horizon (2024-2026) was considered, adopting the National Health Service perspective. Incoming drugs were identified from Biomedtracker, integrated with clinical trial databases, and following specific selection criteria. For each indication, comparators were identified estimating an average therapy cost per patient. After having assessed the effects of incoming drugs, an estimate of the total expenditure was conducted based on epidemiological data available in literature, defining the drug uptake over the time-horizon considered. Finally model's sensitivity was estimated through two deterministic analyses testing the impact of price variations and effects on pharmaceutical expenditure. All data and assumptions were validated by expert opinion.

RESULTS: The analysis considered 110 incoming drugs for rare diseases (86 with orphan designation) between 2024 and 2026, in particular in the oncologic, metabolic and hematologic areas, for a total of 65 indications, most of them with a relevant level of innovation. In 2023, the total expenditure for rare diseases was €2,228,647,724, with an average cost per treated patient of €54,907. The increase in the expenditure compared to 2023 was equal to +0.7%, +1.2%, +2.2%, respectively in 2024, 2025 and 2026. Considering, instead, exclusively drugs with orphan designation, the pharmaceutical expenditure in 2023 was € 1,883,825,117, with an average cost per treated patient of € 45,727. New orphan drugs in the market would generate an increase in the expenditure of +0.8%, +1.5% and +2.7%, respectively in 2024, 2025 and 2026.

CONCLUSIONS: Despite some limitations, these findings highlighted the pharmaceutical industry’s effort in the development of advanced therapeutic solutions that can respond more effectively to the needs of patients affected by rare diseases.