Problems of Social Hygiene, Public Health and History of MedicineProblems of Social Hygiene, Public Health and History of Medicine0869-866X2412-2106Joint-Stock Company Chicot38410.32687/0869-866X-2020-28-5-893-902Научная статьяThe analysis of detection of rare diseases not included into listings of orphan diseases with preferential medication supportKomarovI. A.iliya_komarov@mail.ruKrasilnikovaE. Iu.-ZhulevIu. A.-ZinchenkoR. F.-N. A. Semashko National Research Institute of Public HealthThe All-Russian Union of Public Associations of PatientsThe Federal State Budget Scientific Institution “The N. P. Bochkov Medical Genetic Research Center”1512202028589390206042021Copyright © 2020,2020The study was carried out to analyze detection of rare diseases that are not included into listings of rare (orphan) diseases to be treated at the expense of budget resources of the Russian Federation Russian Federation (hereinafter referred as rare diseases out of reimbursement).The analysis of detection of patients with rare diseases out of reimbursement in Russian Federation was carried out. The information was collected and summarized on the basis of open sources by the way of formalized personal request to the heads of patient and public organizations providing care of patients with rare diseases out of reimbursement.It is established that in the Russian Federation (85 subjects) reside patients with more than 250 forms and groups of rare diseases and only 28 out of them are included into the Federal registries of patients. Actually, there are more than 8 000 nosologic forms of rare diseases that are known thus far. The monitoring permitted to collect data concerning 30 particular nosological forms and groups of rare diseases out of reimbursement. Among them, 23 out of 30 analyzed pathologies have genetic nature. And only for 24 out of 30 diseases the registration of patients is applied.It is necessary to organize modern system of registration of patients within the framework of the Federal registry that includes full and actual data about patients, course of disease, therapeutic interventions that will permit to determine prevalence, disability, mortality, lethality, necessary medicinal maintenance and also to establish spectrum of diseases that are to be included into drug reimbursement programs.rare diseasesregistrydetectabilitydisabilitydrug maintenanceorphan medicinal preparationshealth carelegislationредкие болезнирегистрвыявляемостьинвалидностьлекарственное обеспечениеорфанные лекарственные препаратыздравоохранениезаконодательство[The portal for rare diseases and orphan drugs. Электронный ресурс. Режим доступа: https://www.orpha.net/consor/cgi-bin/index.php (дата обращения 29.02.2020).][Население России: численность, динамика, статистика. Электронный ресурс. Режим доступа: http://www.statdata.ru/russia. (дата обращения 29.02.2020).][Häberle J., Boddaert N., Burlina A. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet. J. Rare. Dis. 2012;7:32. doi: 10.1186/1750-1172-7-32][Воинова В. Ю., Школьникова М. А., Найговзина Н. Б. Ресурсы оказания медицинской помощи больным с орфанными заболеваниями в различных странах. Доктор. Ру. 2018;148(4):6-13.][Волкова Н. С., Аксу Э. Редкие (орфанные) заболевания: правовое регулирование в России и за рубежом. Журнал зарубежного законодательства и сравнительного правоведения. 2018;71(4):154-60. doi: 10.12737/art.2018.4.20][Гаймоленко И. Н. Орфанные заболевания: что мы о них знаем? В сб.: Материалы II Межрегиональной научно-практической конференции «Здоровый ребенок». Чита, 14 апреля 2017 г. Чита: ФГБОУ ВО ЧГМА; 2017.][Захарова Е., Красильникова Е. И. Орфанные болезни. Практика педиатра. 2019;(4):20-6.][Новиков П. В. Редкие (орфанные) наследственные и врожденные болезни у детей: проблемы и задачи на современном этапе. Вопросы практической педиатрии. 2011;16(1):34-44.][Орфанные болезни - редкие, но важные! Педиатрическая фармакология. 2019;16(2):119-21.][Taruscio D., Vittozzi L., Stefanov R. National plans and strategies on rare diseases in Europe. Adv. Exp. Med. Biol. 2010;686:475-91. doi: 10.1007/978-90-481-9485-8_26][Miller K. L., Lanthier M. Investigating the landscape of US orphan product approvals. Orphanet. J. Rare. Dis. 2018;13(1):183. doi: 10.1186/s13023-018-0930-3]