Pharmaceutical care of patients with rare diseases – ia an actual problem of healthcare woldwide. Rare (orphan) disease - a disease that threatens human life or which is chronically progressive, leads to a reduction in the life expectancy of a citizen or his disability, whose prevalence among the population is not more than 1: 2000. The prevalence of orphan diseases in the world varies, so the lists of orphan diseases vary from country to country. In Kazakhstan, for example, an orphan disease is considered patology with the prevalence of 1 case per 10,000 thousand people. About 1,000 children in Kazakhstan are sufferedfrom such diseases. The List of Orphan Diseases is regulated by the order of the Ministry of Health and Social Development of the Republic of Kazakhstan dated 22.05.15. №370 "On Approval of the List of Orphan (Rare) Diseases". This list includes 56 nosologies from the International Classification of Diseases 10 (ICD-10).
In Ukraine, the current normative legal act that establishes a list of orphan diseases is the Order of the Ministry of Health of Ukraine dated30.12.15. No. 919 "On Amendments to the List of Rare (Orphenic) Diseases that caused a shortening of life expectancy of patients or their disability and for which there are recognized methods of treatment ", in accordance with the Order No. 731 dated 29.06.17." On Amendments to the List of Rare (Orphan) Diseases, which lead to a shortening of life expectancy of patients or their disability and for which there are recognized methods of treatment» Thus, in Ukraine, the current list of orphan diseases contains 275 nosologiesby the code of the International Classification of Diseases and Related Health Problems - ICD-10.
According to the principle of "social solidarity", 12 nosologies were identified as priority orphan diseases in Ukraine: juvenile rheumatoid arthritis, bullous epidermolysis, congenital hypothyroidism, hemophilia, pulmonary arterial hypertension, cystic fibrosis, mucopolysaccharidosis, orphanic metabolic diseases, including phenylketonuria, primary (congenital) immunodeficiency, Villebrand's disease, Gauche disease.
Categories of patients with these nosologies are mainly children, exception - a pulmonary arterial hypertension (adults also are suffered). Unified clinical protocol of treatment for 11 priority nosologies has been developed, except primary (congenital) immunodeficiency. The basic therapies are composed of 10 nosologies. The exceptions are: primary (congenital) immunodeficiency and bullous epidermolysis.
In the study the presence of drugs for the treatment of 12 priority orphan diseases in the National DrugFormulary (10-th edition, 2018) (NDF) has been analyzed. It is established: medicines used for the treatment of 6 orphan diseases among priority states have been included in the National List of Essential Medicines, namely, for the treatment of juvenile rheumatoid arthritis, Willebrand disease, cystic fibrosis, pulmonary arterial hypertension, congenital hypothyroidism and hemophilia [7]. Medicines for treatment of two nosologies of the 12 priority orphan diseases (cystic fibrosis and pulmonary arterial hypertension) have been included in the NDF. It should be noted that this drugs are used for a symptomatic therapy mainly.
It has been established that the providing of patients with orphan diseases requires significant changes. The development of unified clinical protocols and basic therapies will increase the level of providing quality medical and pharmaceutical care. The introduction of necessary medicines in the National List of Essential Medicines and the State Formulator is the important mechanism for ensuring the availability of therapy of orphan disease. Creation of criteria for assigning orphan diseases to the list of priority orphan diseases will make it possible to make adjustments in the mechanisms of securing the most socially important orphan diseases.