Early Diagnosis and Access to Treatment of Vital Importance in the Fight Against Rare Diseases
26.02.2025
Delivering a statement on February 28th Rare Disease Day, AIFD Health Policies Director Dr. Pharm. Nihan Burul Bozkurt stated that more than 5 million people in Türkiye are battling rare diseases and emphasized that early diagnosis and access to treatment are of vital importance, especially for genetic, chronic, and progressive diseases.
The “Rare Diseases in Türkiye” report, prepared by IQVIA in collaboration with AIFD, which operates to ensure timely and sustainable access to innovative medicines and treatments in Türkiye while fostering a dynamic pharmaceutical sector, serves as a reference source for all stakeholders working to find solutions in this field. According to the report, individuals with rare diseases in Türkiye wait an average of 7 years to receive an accurate diagnosis and consult an average of 8 different specialists during this process. Delayed diagnosis makes it more difficult for patients to access treatment.
In Türkiye, only 1 out of 63 orphan drugs is on the reimbursement list
Drugs developed for rare diseases are called orphan drugs. However, effective treatments have been developed for only 5% of the 8,000 rare diseases identified worldwide so far. While special incentives are provided for the development of orphan drugs in regions such as Europe and the U.S., access to these medications in Türkiye is generally limited and mostly available through the Foreign Drug List.
According to the W.A.I.T. report prepared by EFPIA and IQVIA, 167 innovative treatments approved by the European Medicines Agency (EMA) between 2019 and 2022 were examined. Of these drugs, 63 are orphan drugs. However, as of 2023, only 1 orphan drug is available for reimbursement in Türkiye, and access to this drug is limited through the Foreign Drug List. This situation shows that patients with rare diseases in Türkiye face significant challenges in accessing treatment.
AIFD Health Policies Director Dr. Pharm. Nihan Burul Bozkurt states the following on this matter: “In Türkiye, more than 5 million people are struggling with rare diseases. Early diagnosis and access to innovative treatments are critical to improving patients’ quality of life. There is no specific legal regulation for orphan drugs in our country. Special provisions for orphan drugs in the reimbursement regulation and the acceleration of the licensing processes will facilitate access to these drugs. As AIFD, we continue to collaborate with the public sector, private sector, and civil society organizations to ensure that individuals with rare diseases in Türkiye have access to effective treatments. In 2023, through our association’s initiative, the ‘Rare Diseases in Türkiye’ report was prepared by IQVIA to serve as a guide and reference source in all our work. As stated in our report, rare diseases are a challenging area, and global and local collaborations are therefore vital in this fight. We continue to support these collaborations in order to realize the 19 recommendations focused on improving the diagnosis and treatment of rare diseases in Türkiye, as emphasized in the 12th Development Plan. In the effective management of rare diseases, conducting R&D activities for these diseases, preventing and early diagnosing diseases, providing patients with access to all the treatments they need, including supportive therapies, maintaining long-term and regular patient records, and raising awareness among both healthcare workers and the general public are of great importance. In Türkiye, important steps to be taken for access to orphan drugs include legal arrangements to grant ‘orphan drug’ status to drugs developed for the treatment of rare diseases, including provisions on orphan drugs in the reimbursement regulation, and evaluating and addressing different and effective models in the licensing, pricing and reimbursement processes of orphan drugs. Collaborations between the public sector, private sector, and civil society organizations are invaluable in providing the necessary support to patients and their families battling rare diseases and ensuring that patients in our country have access to effective treatments. As AIFD, we are open to constructive cooperation with all stakeholders on the path toward a world where no patient is left behind, with the development of diagnoses and treatments for rare diseases. As always, we are ready to contribute and be a partner in finding solutions.”
You can access the full Rare Diseases Report through the link.