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

Year 2019, Volume: 1 Issue: 2, 95 - 109, 31.03.2019

Buket Aksu

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

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