Rare Disease Day: Structural steps are needed to move forward for the 5 million people living with rare diseases in Türkiye
10.03.2026
Rare diseases affect more than 5 million people in Türkiye; access to orphan medicines in the field of rare diseases remains well below the EU average. The Türkiye Pharmaceutical Industry Report 2025, prepared in collaboration between the Association of Research-Based Pharmaceutical Companies (AIFD) and IQVIA, reveals the latest data on rare diseases and access to orphan medicines. The findings in the report point to the importance of data-driven and sustainable policies in this field.
Each year on February 28, within the scope of Rare Disease Day, rare diseases that affect millions of people are discussed. As their name suggests, however, each of these diseases are rare, often preventing them from gaining visibility. In rare diseases, the length of diagnostic processes, the limited treatment options, and accessibility challenges make this area one of the most sensitive topics in health policy.
The Türkiye Pharmaceutical Industry Report 2025, prepared in collaboration between AIFD and IQVIA, presents the global and local picture in the field of rare diseases through its up-to-date data on rare diseases and access to orphan medicines.
More than 5 million people in Türkiye live with rare diseases
According to the European Union definition, diseases with a prevalence of 1 in 2,000 or lower are considered “rare diseases.” Türkiye also adopts this definition. It is estimated that more than 5 million people in Türkiye live with rare diseases. Prevalence being above the European average is often linked to the high rate of consanguineous marriages. Globally, approximately 300 million people, and around 30 million people in Europe, are affected by rare diseases.
Access to orphan medicines in Türkiye is 2%
Because each rare disease affects a limited number of people, conducting R&D activities for rare diseases requires complex and high-cost processes. In addition, clarifying the mechanisms that cause these diseases is itself a difficult and complex process. As a result, the number of treatments developed for rare diseases remains very limited. In order to address this issue, treatments that target a limited number of patients are defined as “orphan medicines” in many countries around the world. The R&D activities and market access processes of these medicines are supported through various legal regulations. Currently, there is no specific legal regulation for orphan medicines in Türkiye. According to the European Federation of Pharmaceutical Industries and Associations (EFPIA) W.A.I.T. 2024 study included in the Türkiye Pharmaceutical Industry Report 2025, there are 66 orphan medicines that were authorized by the European Medicines Agency (EMA) between 2020 and 2023. As of 2024, only one of these medicines is included in the reimbursement system in Türkiye.
While the average access rate to orphan medicines across the EU is around 42%, this rate remains at 2% in Türkiye. Access to orphan medicines is often provided through the Overseas Medicines List. While this model creates long and complex processes for patients, it also brings discussions regarding sustainability for the healthcare system.
“In the current situation, our priority should not be redefining the policy frameworks necessary for rare diseases, but implementing the identified policy recommendations with determination”
Dr. (Pharm.) Nihan Burul Bozkurt, Deputy Secretary General of the Association of Research-Based Pharmaceutical Companies, which works to accelerate access to innovative medicines and treatments in Türkiye and to increase Türkiye’s global competitiveness in pharmaceutical research and development, made the following statement on the issue: “Unfortunately, there is no specific legal regulation for orphan medicines in our country, nor is there an officially defined ‘orphan medicine’ designation. Due to the nature of rare diseases, special policy tools are needed. In Türkiye, establishing legal regulations that enable medicines developed for the treatment of rare diseases to be granted ‘orphan medicine’ status, and evaluating different and effective models in licensing, pricing, reimbursement, and clinical research processes, would constitute important steps toward improving access to these medicines. In this context, the Rare Diseases Report published in 2023 by IQVIA with the support of AIFD continues to maintain its relevance as an important reference and roadmap in this field. The 19 policy recommendations presented in the report under the headings of national policies, infrastructure, and R&D systematically define the needs in the field of rare diseases and clarify applicable solution areas. At present, our priority should not be redefining these solution areas in our country, but implementing the identified policy recommendations with determination.”
“Access to orphan medicines is an important indicator”
Dr. Ümit Dereli, Secretary General of the Association of Research-Based Pharmaceutical Companies, emphasized the current situation regarding access to orphan medicines and made the following remarks in his Rare Disease Day evaluation: “The Türkiye Pharmaceutical Industry Report 2025 clearly reveals the access gap in the field of rare diseases. Access to orphan medicines is not only an issue limited to treatment; it is also an important indicator in terms of the inclusiveness and sustainability of the healthcare system. Structural steps to be taken in this area will both improve patients’ quality of life and strengthen the predictability of our healthcare system.
Collaborations carried out by the public sector, the private sector, and civil society organizations are extremely valuable in order to provide the necessary support to patients and their families who are struggling with rare diseases and to ensure that patients in our country can access effective treatment. As AIFD, as always, we are ready to contribute to the best of our ability and to act as a solution partner. At the same time, we remain open to constructive cooperation with all stakeholders on the path toward a world in which diagnoses and treatments that leave no patient behind are developed and accessible in the field of rare diseases.
Progress in the field of rare diseases is possible through strengthening early diagnosis capacity, supporting clinical research, developing data infrastructure, and establishing sustainable access models for orphan medicines. Rare Disease Day once again reminds us of the importance of more inclusive, data-driven, and sustainable solutions for these diseases that may be individually rare but collectively affect millions of people.”