biopreparatБИОпрепараты. Профилактика, диагностика, лечениеBiological Products. Prevention, Diagnosis, Treatment2221-996X2619-1156Scientific Centre for Expert Evaluation of Medicinal Productsbiopreparat-16Research ArticleОБЗОРЫREVIEWSОрфанные препараты, принципы их регистрации и примененияOrphan drugs and the principles of their marketing authorization procedures and clinical useСолдатовАлександр АлексеевичSoldatovA. A.Soldatov@expmed.ruАвдееваЖанна ИльдаровнаAvdeevaZh. I.noemail@neicon.ruАлпатоваНаталья Александровна.AlpatovaN. A.noemail@neicon.ruМедуницынНиколай ВасильевичMedunitsynN. V.noemail@neicon.ruЛысиковаСветлана ЛеонидовнаLysikovaS. L.noemail@neicon.ruФедеральное государственное бюджетное учреждение «Научный центр экспертизы средств медицинского применения» Министерства здравоохранения Российской ФедерацииRussian Federation20152002201803416Copyright © Солдатов А.А., Авдеева Ж.И., Алпатова Н.А., Медуницын Н.В., Лысикова С.Л., 20182018Солдатов А.А., Авдеева Ж.И., Алпатова Н.А., Медуницын Н.В., Лысикова С.Л.Soldatov A.A., Avdeeva Z.I., Alpatova N.A., Medunitsyn N.V., Lysikova S.L.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.biopreparations.ru/jour/article/view/16

Одной из наиболее сложных проблем современной медицины является диагностика, лечение и профилактика редких заболеваний. В структуре редких заболеваний преобладающее место занимают генетически обусловленные заболевания. Внедрение методов генетического тестирования способствовало выявлению большого количества наследственных заболеваний, численность которых в настоящее время достигает 8000 и прогнозируется увеличение частоты их выявления. Лекарственные препараты, предназначенные для диагностики или патогенетического лечения редких заболеваний, относят к группе орфанных. Наиболее эффективными из этой группы являются биологические препараты. Это обусловлено способностью биологических препаратов специфически связываться с «рецептором-мишенью», что позволяет использовать их в качестве препаратов направленного действия. Еще одним преимуществом биологических препаратов, по сравнению с препаратами химического происхождения, является их низкая токсичность. Лекарственное обеспечение орфанными препаратами является наиболее острой проблемой, поскольку для лечения тяжелых форм редких заболеваний может потребоваться назначение дорогостоящего лекарственного средства. Промышленное производство орфанных препаратов может быть нерентабельным в силу малой распространенности редких заболеваний. Поэтому доступность орфанных препаратов для пациентов зависит от участия государства в стимулировании их производства. В различных странах нормативные требования для признания заболевания редким и регистрации орфанного препарата разрабатываются с учетом социальных и экономических особенностей страны. В работе представлен анализ нормативных требований разных стран для выявления редких заболеваний и общих подходов к регистрации препаратов, используемых для лечения редких заболеваний на примерах биологических орфанных препаратов.

One of the most complicated issues of modern medicine is diagnosis, treatment and prevention of rare diseases. In the structure of rare diseases the vast majority accounts for genetically determined disorders. The introduction of genetic testing methods helped to identify a lot of hereditary diseases, that currently reach the number of 8,000 cases and according to estimations the frequency of their detection is about to increase. Medicinal products for diagnosis or treatment of rare diseases form the group of orphan drugs. Biologicals are the most effective medicinal products in the whole group, due to their ability to bind specifically with the «target receptor», which allows to use them as targeted drugs. Another advantage of biologicals, compared with preparations of chemical origin, is their low toxicity. Orphan drug provision is the most severe issue because the treatment of severe forms of rare diseases may require the prescription of an expensive drug. Manufacturing of orphan drugs may be unprofitable for the reason of the low prevalence of rare diseases. Therefore, the availability of orphan drugs for patients depends on the amount of state participation in manufacture stimulation. In various countries regulatory requirements for the recognition of a disease as a rare disease, and marketing authorization procedures for orphan drugs are developed with due regard to the social and economic characteristics of the country. The article presents the analysis of the regulatory requirements for various countries for the detection of rare diseases, and a common approach to marketing authorization procedure for the drugs used in treatment of rare diseases, exemplified by biological orphan preparations.

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The authors declare that there are no conflicts of interest present.