Rare Disease and Orphan Drug Situations in Turkey and around the World

Abstract

Abstract: Diseases with a prevalence less than 1/2000 are defined as “Rare Diseases”. This group of diseases is a highly

heterogeneous group that affects multiple systems. Approximately 80% of these are caused by genetic reasons, and

the remaining 20% are caused by environmental factors or are idiopathic. Orphan drug is defined as a medicinal

product designed for a life-threatening or chronically impairing rate disease but with a low possibility of obtaining a

return on investment due to insufficient sales. In Turkey, where consanguineous marriage frequency is 25% on average,

the probability of rare diseases is quite high. Lack of knowledge and specialist physicians, very expensive treatments,

and lack of a designated regulation for rare diseases and orphan drugs are the main problems in our country. The

research revealed that orphan drugs were imported to Turkey through the Turkish Pharmacists’ Association (TEB)

and not covered by Social Security, therefore making it hard for the patients with low income to reach these drugs.

Keywords

• Rare,disease,orphan,drug

References

1. Aagaard, L., Kristensen, K. (2014). Access to crossborder health care services for patients with rare diseases in the European Union. Orphan Drugs: Research and Reviews, 39–45.
2. Akıcı, A., Ulupınar, S. (2015). The Role of Patient Care Personnel in Rational Drug Use, Social Security Institution Brochure, http://gss.sgk.gov.tr/aik/toplum/hastayardimci/doc/hastabakimaikbrosur.pdf (accessed May 2015).
3. Balık, İ. (2014). Association of Research-Based Pharmaceutical Companies (AIFD) Rare Diseases and Orphan Medicine Symposium Orphan Drug Regulation Workshop Book, 13-14 September.
4. Blankart, R.C., Stargardt, T., Schreyogg, J. (2011). Availability of and access to orphan drugs. Pharmacoeconomics, 29:63–82.
5. Çalışkan, Z. (2008). Referans Fiyat ve İlaç Piyasası. Hacettepe Journal of Health Administration,11(1), 50-75. Campos-Castell, J. (2001). Orphan drugs and orphan diseases (Spanish). Rev Neurol., 33, 216-220.
6. Dear, J.W., Lilitkarntakul, P., Webb, D.J. (2006). Are rare diseases still orphans or happily adopted? The challenges of developing and using orphan medicinal products. Br J Clin Pharmacol, 62, 264-271
7. Denis, A., Mergaert, L., Fostier, C., Cleemput, I., Simoens, S. (2010). Issues surrounding orphan disease and orphan drug policies in Europe. Appl Health Econ Health Policy., 8, 343-50.
8. Developing Products for Rare Diseases & Conditions. U.S. Department of Health and Human Service, https://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/default.htm (accessed 7 February 2010)

9. Dionisi-Vici, C., Rizzo, C., Burlina, A.B., Caruso, U., Sabetta, G., Uziel, G., A,beni, D. (2002). Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr, 140(3), 321-7.
10. Dündar, M., Karabulut, S.Y. (2010). Rare Disease and Orphan Drugs in Turkey; Medical and Social Problem. Erciyes Medical Journal, 32(3), 195-200.
11. European Medicines Agency, https://www.ema.europa.eu/en/human-regulatory/overview/orphandesignation- overview (accessed 15 October 2016)
12. Haffner, M.E., Torrent-Farnell J., Maher, P.D. (2008). Does orphan drug legislation really answer the needs of patients?, Lancet. 14, 371(9629):2041-4. doi: 10.1016/S0140-6736(08)60873-9.
13. Gammie, T., Lu, C.Y., Babar, Z.D. (2015). Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries. PlosOne., 10, 1-24.
14. Hadjivasiliou, A. (2014). Orphan Drug Report 2014. Evaluate Pharma., 3-19
15. Kesselheim, A.S., Myers, J.A., Avorn, J. (2011). Characteristics of clinical trials to support approval of orphan vs non-orphan drugs for cancer. JAMA., 305, 2320-2326.
16. Orphanet’ Rare diseases in numbers: preliminary report from an ongoing bibliographic study initiated by Eurordis in partnership with Orphanet, https://www.orpha.net/actor/Orphanews/2005/doc/Rare_ Diseases_in_Numbers.pdf (accessed 10 December 2016)
17. Özbek, U. (2014). İstanbul University, Experimental Medicine Research Institute (DETAE), Orphanet-Turkey, Rare Diseases and Orphan Medicine Symposium, 13-14 September.
18. Pedro, F. (2013). Orphan Drugs: the regulatory environment. Drug Discov Today., 18, 163–72.
19. Sosyal Güvenlik Kurumu Çalışanlarının Akılcı İlaç Kullanımındaki Etkin Rolü ve Farmakoekonomi. (2013). Book T.C. Social Security Institution, Publication No: 114
20. Stolk, P., Willemen, M.J., Leufkens, H.G. (2006). Rare essentials: drugs for rare diseases as essential medicines. Bull World Health Organ., 84, 745-751.
21. Taruscio, D., Cerbo, M. (1999). Rare diseases: general principles, specific problems, and health interventions (Italian). Ann Ist Super Sanita, 35, 237-244.
22. Wastfelt, M., Fadeel, B., Henter, J.I. (2006). A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J Intern Med, 260, 1-10.
23. Wetterauer, B., Schuster, R. (2008). Rare diseases. Funding programs in Germany and Europe (German). Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz., 5, 519-528.