OBJECTIVES: The centralized procedure (CP) is compulsory for orphan medicines and, after the marketing authorization (MA) by the European Commission, the medicine can be marketed throughout the EU. However, accessibility is dependent on pharmaceutical and economic policy in each EU Member State, which is determinant not only for patients access but also to pharmaceutical companies’ market strategy. The aim of this study is to evaluate the access to orphan drugs in Portugal.

METHODS: Orphan drug records were extracted from EMA database. Variables collected included medicine name, MA status and date, ATC code, conditional (CA) and exceptional circumstances (EC) approvals. Only those with a valid MA were included. Therapeutic areas were categorized according to the first level of ATC code. National access data regarding registration number, marketing status and early access programs were retrieved from INFARMED - National Authority of Medicines and Health Products database.

RESULTS: Up to June 2024, 175 orphan drugs applications have been assessed under CP: 18 have been refused and one have been withdrawn, leaving a total of 156 orphan drugs with valid MA. Antineoplasic and immunomodulating agents (AIA) (37.8%) and alimentary and tract metabolism drugs (ATM) (17.9%) were the most frequent therapeutic areas. A total of 20 MA (12.8%) were granted under EC and 26 (16.7%) under CA. The proportion of orphan drugs registered in Portugal is 80.8% and only 38.5% are currently being marketed. The respective proportions for AIA and ATM were 42.1% and 18.3% and 20.6% and 7.1%. Of the 156 orphan drugs with valid MA, 38 (24.4%) are currently being accessed through a national early access program.

CONCLUSIONS: A gap has been observed between European authorizations and national accessibility to orphan drugs, revealing barriers on the access to innovation.