Rare cancers are defined by an annual incidence of fewer than 6 per 100,000. Bearing similarities to rare diseases, they are associated with substantial health inequalities due to diagnostic complexity and delayed access to innovative therapies. This situation is further aggravated in Southeastern European countries like Bulgaria, where limited public resources and expertise underscore the need for additional policy and translational research on rare cancers. This study aimed to explore the availability and access to orphan drugs for rare cancers in Bulgaria for the period of 2020–2023. We cross-compared data from both the European Union and national public sources to evaluate the number of available and accessible orphan drugs for rare cancers, the delay from market authorization to reimbursement, the dynamics of public expenditures, and regional disparities in access across the country. We juxtaposed the main characteristics of oncological and non-oncological orphan drugs as well. Only 15 out of 50 oncological orphan drugs that were authorized by the European Medicine Agency were accessible for rare cancer patients in Bulgaria. The median delay between market authorization and inclusion in the Bulgarian Positive Drug List was 760 days. The total expenditures for all orphan drugs for rare cancers amounted to EUR 74,353,493 from 2020 to 2023. The budgetary impact of this group rose from 0.24% to 3.77% of total public medicinal product expenditures for the study period. Rare cancer patients represent a vulnerable population that often faces limited to no access to treatment. We call for targeted European and national policies to address this major inequality.

Gene therapies (GTs) have recently emerged as revolutionary personalized therapeutic options. Despite their promising potential, challenges such as uncertainty regarding long-term health benefits and safety, along with extreme price tags, pose significant obstacles to patient access. Within the EU, the European Medicines Agency plays a pivotal role with regards to GT market authorization. However, national authorities are responsible for pricing and reimbursement, which results in fragment patient access within the EU. This study aimed to provide an overview of the complex landscape of post-market authorization accessibility for GT products in Bulgaria, comparing it with neighboring EU countries. We applied a mixed-methods approach, including desk research, public data requests, and list price comparisons. As of 1 April 2023, 14 GTs had a valid market authorization at the EU level. In Bulgaria, Kymriah^® was the only GT included in the Positive Drug List (PDL), with an official list price of EUR 335,636.94. Similar results were found in Romania, whereas five GTs were included in Greece’s PDL. Additionally, Zolgensma^® was found accessible in Bulgaria through an alternative individual access scheme at an estimated price of EUR 1,945,000.00. In conclusion, this study emphasized targeted policy interventions to address health inequalities and to ensure timely access to GTs within the EU.