Rare diseases are defined as the diseases that occur in up to 5 out of every 10,000 people in the society in Europe, the results of which are life threatening and disabiling.1 Rare diseases are generally severe, chronic diseases and mostly cause sequelae or death in the patient. It is known that 30% of these patients died before the age of 5.2 The number of rare diseases known globally exceeds 7000.3 Although these diseases, mostly 80% of which are of genetic origin, and the rest from environmental effects such as viral and bacterial infections, allergies, occur mostly in childhood, the first findings can be seen in adulthood in a considerable number of rare diseases.2,4,5,6
Rare diseases are estimated to affect 6-10% of the population and 3-4% of births.4,7,8,9 Globally, the fight against rare diseases is about 350-400 million,10,11 and it is about 5 to 6 million people and their relatives when compared to the population in Turkey. It is estimated to be an approved treatment for only 5% of rare diseases.12
Due to the lack of awareness in rare diseases and the low number of affected patients, the accurate diagnosis is often delayed. These delays in diagnosis can be important for many patients and can lead to irreversible progression of the patient’s condition.2,4,6,13
Rare cancers are a subset of rare diseases and it is estimated that there are 198 rare cancers. In Europe, rare cancers account for 22% of all cancer diagnoses.14
Orphan drugs are described as human medicinal products used for the diagnosis, prevention, or treatment of rare diseases that are life-threatening or disabling.
In 2018, a survey was conducted with the participation of AIFD member companies15. According to the survey, only 53 products are licensed in Turkey of the 252 products licensed as an orphan drug in any country globally. Only 30% of 226 products from these licensed drugs (including pre-licensing early access programs) that provide access to patients worldwide are also available in our country.
On the other hand, medicines that are not licensed in our country, especially orphan drugs, can be obtained from abroad on a prescription basis with the approval of the Ministry of Health and can be reimbursed in some cases (within the scope of the Health Implementation Communiqué Annex 4 / C). 60% of the orphan drugs accessed in our country are available through Annex 4 / A and the remaining 40% through Annex 4 / C. According to the survey results, while the high priority recognition rate of member firms for orphan drugs is 70%, the first priority recognition rate in GMP processes is 40%.
The average GMP certification period is 1.9 years, and the average licensing period is 2.3 years, and when combined with the GMP process, the licensing processes of the products can take more than 4 years. The pricing system used for licensed products in our country is also valid for orphan drugs. However, orphan products obtained from abroad within the scope of SUT Annex 4 / C are not subject to the binding rules applicable to licensed products.
1) EU Regulation (EC) No 141/2000 of the European Parliament and of the Council, on Orphan Medicinal Products. 16 December 1999.
2) EURORDIS: European Organisation for Rare Diseases. What is a Rare Disease?, 2007.
4) EURORDIS: European Organisation for Rare Diseases. Rare Diseases: understanding this Public Health Priority, 2005.
5) Melnikova I. Rare diseases and orphan drugs. Nature reviews Drug discovery 2012;11(4):267-8.
6) European Commission. Communication from the Commission to the European Parliament, the Council and the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe’s Challenge, 2008.
7) EURORDIS: European Organisation for Rare Diseases. The Voice of 12,000 Patients – Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe, 2013.
8) Rajasimha HK, Shirol PB, Ramamoorthy P, et al. Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases’ community. Genetics research 2014;96:e009.
9) European Commission. Policy: Rare Diseases-what are they?:2016. Available from: http://ec.europa.eu/health/rare_diseases/policy/index_en.htm.
10) de Vrueh R BE, de Haan JMH,. Priority Medicines for Europe and the World “A Public Health Approach to Innovation” Background Paper 6.19 Rare Diseases., 2013.
11) Global Genes. RARE Facts 2019. Available from: https://globalgenes.org/rare-facts/
12) PhRMA. A Decade of Innovation in Rare Diseases, 2015.
13) Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet journal of rare diseases 2013;8:22.
14) Gatta G, van der Zwan JM, Casali PG, et al. Rare cancers are not so rare: the rare cancer burden in Europe. European journal of cancer (Oxford, England : 1990) 2011;47(17):2493-511.
15) Paradigma, Orphan Drugs Environment in Turkey, 2018