Orphan diseases

According to the All-Russian Society of Orphan Diseases, about 30 million patients with rare diseases were registered in the European Union. This means that every 15th European suffers from one or another orphan disease. The figures are impressive, given that the synonym for orphan diseases is “rare diseases”.

Federal Law 323 states that orphan disease is a disease the prevalence of which is not more than 10 cases per 100 thousand population.

The Ministry of Health of Russia has 217 groups of diseases and nosological forms, which are part of the group of orphan diseases. In total, about 5-7 thousand rare diseases are known. Most of them belong to the group of endocrine diseases (58 groups), followed by lesions of blood and hematopoietic organs (43 groups) and various neoplasms (38 groups). Widely known orphan disease is hemophilia (blood clotting disorder), which suffered Tsarevich Alexei Romanov, son of Nicholas II.

For pathogenetic treatment (treatment aimed at the mechanism of disease development) and diagnostics of such diseases orphan drugs are used. The cost of treatment varies from 100 thousand to 1 million per month. Such treatment costs are associated with the use of expensive biotechnologies, including the development of monoclonal antibodies, recombinant proteins, etc. The creation of an innovative drug takes about 10 years of work and about 10 billion investments. Such costs pay off for a long time, as the drugs are intended for a limited circle of patients. This leads to an increase in the cost of orphan drugs.

In Russia, the program “12 nosology” is being implemented, under which funds are allocated for the treatment of patients suffering from the following diseases/conditions:

1. Hemophilia

2. Cystic fibrosis

3. Pituitary nanism

4. Goshe disease

5. Mucopolysaccharidosis (I, II, VI types)

6. Multiple sclerosis

7. Hemolytic uremic syndrome

8. Youth arthritis

9. Malignant formation of lymphoid tissue

10. Malignant formation of hematopoietic tissue

11. Malignant formations of tissues related to lymphoid and hematopoietic tissues

12. Organ and (or) tissue transplantation

With regard to registration of orphan drugs, Russia provides for an accelerated procedure for placing such drugs on the market. For this purpose, it is necessary to specify the need to carry out examination of the documents to determine the possibility of considering the drug as orphan in the application for registration. The state fee for such examination is 25 000 rubles. Duration of examination is 30 working days.

Further, in case of a positive decision, the dossier on the drug is tested within 10 working days, and examination of the quality of the drug and examination of the relationship of expected benefit to possible risk of use is carried out within 60 working days. The cost of state duties for carrying out examinations is 325,000 rubles.

It is important to note that in relation to orphan drugs, it is possible to provide results of preclinical and clinical trials conducted abroad.

In case of positive results of examinations, a registration certificate is issued. The cost of the duty for the issuance of RC is 10 000 rubles.

---

1.  Федеральный закон от 12.04.2010 N 61-ФЗ "Об обращении лекарственных средств"