Overview of Orphan Medicines in European Union: An Analysis of Regulatory and Technical-Scientific Aspects

Introduction: The Orphan Medicinal Product Regulation was adopted in the EU in 2000 to encourage the implementation of medicines for rare diseases. Providing a current overview of its effects, this study was performed on medicines with active orphan designation authorised in the EU until January 17, 2024. Materials and methods: Based on the Community Register of orphan medicinal products for human use, active orphan designations of medicines that have been granted marketing authorisation (MA) were included in the study. General information on medicines, orphan designations, and MAs was collected from web-based sources and analysed using descriptive statistics. Results: Since 2000, 149 medicines with clinical indications with active orphan designation have been granted MA in the EU, making a total of 184 authorised orphan indications. Most medicines (96;64.4%) received standard MA, while 33 (22.1%) received conditional MA and 20 (13.4%) MA under exceptional circumstances. Sixty-five (43.6%) medicines were biological products, mainly monoclonal antibodies, recombinant human peptides or enzymes, or gene therapies. Active orphan designations with outcome for MA were primarily for indications for neoplasms or endocrine, nutritional or metabolic diseases. Orphan indications were licensed after a mean of 67.2 months (range 6–249 months) from designation date. For 93 (50.5%) orphan designations, the prevalence estimate of the condition in the EU was ≤ 1/10,000. Conclusions: Despite pharmacological advances, a limited number of orphan medicines have been authorised in the EU since the entry into force of the Orphan Regulation, making the lack of available medicines for rare diseases still a public health problem.