clinvestКачественная клиническая практикаKachestvennaya Klinicheskaya Praktika = Good Clinical Practice2588-05192618-8473ООО «Издательство ОКИ10.37489/2588-0519-2024-4-82-96MQOHEIclinvest-765Research ArticleОРФАННЫЕ ПРЕПАРАТЫORPHAN DRUGSПути снижения неопределённости клинической эффективности применения орфанных лекарственных препаратовApproaches to reduce the uncertainty in the clinical efficacy of orphan drugshttps://orcid.org/0000-0003-1581-0703ОмельяновскийВ. В.ОmelyanovskiyV. V.

Омельяновский  Виталий  Владимирович — д. м. н., профессор; генеральный директор; зав. кафедрой организации здравоохранения и общественного здоровья с курсом оценки технологий здравоохранения

Москва

Vitaliy V. Оmelyanovskiy — Dr. Sci. (Med.), Professor, Director General; Head of the Department of healthcare organization and public health with a course of health technology assessment

Moscow

 

vvo@rosmedex.ruhttps://orcid.org/0000-0002-3133-8018КуцевС. И.KutsevS. I.

Куцев Сергей Иванович — д. м. н., профессор, академик РАН, директор

Москва

Sergey I. Kutsev — Dr. Sci. (Med.), Professor, Academician of the Russian Academy of Sciences, Director

Moscow

kutsev@mail.ruhttps://orcid.org/0000-0001-7261-3461МухортоваП. А.MukhortovaP. A.

Мухортова Полина Алексеевна — главный специалист отдела методологического обеспечения проведения комплексной оценки технологий в здравоохранении

Москва

Polina A. Mukhortova — Chief Specialist of the Department of methodological support of health technology assessment

Moscow

Muhortova@rosmedex.ruhttps://orcid.org/0000-0002-9813-6357ХаритоноваА. Г.KharitonovaA. G.

Харитонова Анна Геннадиевна — ведущий специалист отдела методологического обеспечения проведения комплексной оценки технологий в здравоохранении

Москва

Anna G. Kharitonova — Leading specialist of the Department of methodological support of health technology assessment

Moscow

Subbotina@rosmedex.ruhttps://orcid.org/0009-0001-7817-5180СлабиковаА. А.SlabikovaA. A.

Слабикова Александра Алексеевна — ведущий специалист отдела методологического обеспечения проведения комплексной оценки технологий в здравоохранении

Москва

Alexandra А. Slabikova — Leading specialist of the Department of methodological support of health technology assessment

Moscow

Slabikova@rosmedex.ruhttps://orcid.org/0000-0003-0786-9174ИгнатьеваН. В.IgnatyevaN. V.

Игнатьева Нелли Валентиновна — к. фарм. н., доцент

Москва

Nelli V. Ignatyeva — Cand. Sci. (Pharm.), Associate Professor

Moscow

nelli.v.ignatieva@gmail.comhttps://orcid.org/0000-0002-3686-7306КингшоттА. А.KingshottA. A.

Кингшотт Анастасия Александровна — начальник отдела методологического обеспечения проведения комплексной оценки технологий в здравоохранении; ассистент кафедры организации здравоохранения и общественного здоровья с курсом оценки технологий здравоохранения

Москва

Anastasia A. Kingshott — Head of the Department of methodological support of health technology assessment; assistant of the Department of healthcare organization and public health with a course of health technology assessment

Moscow

Pochuprina@rosmedex.ruhttps://orcid.org/0000-0001-5312-1007ТепцоваТ. С.TeptsovaT. S.

Тепцова Татьяна Сергеевна — зам. начальника отдела методологического обеспечения проведения комплексной оценки технологий в здравоохранении; ассистент кафедры организации здравоохранения и общественного здоровья с курсом оценки технологий здравоохранения

Москва

Tatiana S. Teptsova — Deputy Head of the Department of methodological support of health technology assessment; assistant of the Department of healthcare organization and public health with a course of health technology assessment

Moscow

https://orcid.org/0000-0001-7762-7854БогдановаВ. О.BogdanovaV. O.

Богданова Валерия Олеговна — к. м. н., главный специалист отдела организационно-методического обеспечения поддержки деятельности национальных медицинских исследовательских центров; доцент кафедры организации здравоохранения и общественного здоровья с курсом оценки технологий здравоохранения

Москва

Valeria O. Bogdanova — Cand. Sci. (Med.), chief specialist of the Department of organizational and methodological support of national medical research centers; associate professor of the Department of healthcare organization and public health with a course of health technology assessment

Moscow

 

valeriya.bar@mail.ruФГБУ «Центр экспертизы и контроля качества медицинской помощи» Минздрава России; ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииРоссияCenter for Healthcare Quality Assessment and Control of the Ministry of Health of Russia; Russian Medical Academy of Continuing Professional EducationRussian FederationФГБНУ «Медико-генетический научный центр имени академика Н. П. Бочкова»РоссияResearch Centre of Medical GeneticsRussian FederationФГБУ «Центр экспертизы и контроля качества медицинской помощи» Минздрава России; ФГБНУ «Медико-генетический научный центр имени академика Н. П. Бочкова»РоссияCenter for Healthcare Quality Assessment and Control of the Ministry of Health of Russia; Sechenov UniversityRussian FederationФГБУ «Центр экспертизы и контроля качества медицинской помощи» Минздрава России; ФГАОУ ВО «Первый Московский государственный медицинский университет имени И. М. Сеченова» Минздрава России (Сеченовский университет)РоссияCenter for Healthcare Quality Assessment and Control of the Ministry of Health of Russia; Sechenov UniversityRussian FederationФГБУ «Центр экспертизы и контроля качества медицинской помощи» Минздрава России; ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииРоссияCenter for Healthcare Quality Assessment and Control of the Ministry of Health of Russia; Russian Medical Academy of Continuous Professional Education of the Ministry of Health of RussiaRussian FederationФГАОУ ВО «Первый Московский государственный медицинский университет имени И. М. Сеченова» Минздрава России (Сеченовский университет)РоссияSechenov UniversityRussian Federation202417012025048296Copyright © Омельяновский В.В., Куцев С.И., Мухортова П.А., Харитонова А.Г., Слабикова А.А., Игнатьева Н.В., Кингшотт А.А., Тепцова Т.С., Богданова В.О., 20252025Омельяновский В.В., Куцев С.И., Мухортова П.А., Харитонова А.Г., Слабикова А.А., Игнатьева Н.В., Кингшотт А.А., Тепцова Т.С., Богданова В.О.Оmelyanovskiy V.V., Kutsev S.I., Mukhortova P.A., Kharitonova A.G., Slabikova A.A., Ignatyeva N.V., Kingshott A.A., Teptsova T.S., Bogdanova V.O.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.clinvest.ru/jour/article/view/765

Лекарственные препараты (ЛП) для лечения редких (орфанных) заболеваний характеризуются высокой неопределённостью в отношении их клинической эффективности. В большей степени это обусловлено малым количеством доступных и убедительных клинических исследований и данных по их эффективности. Цель данного обзора заключалась в описании основных проблем, связанных с характеристиками орфанных заболеваний, в т. ч. с характеристиками клинических исследований орфанных ЛП, непосредственно орфанных ЛП, этическими вопросами, а также предложений возможных путей решения данных проблем. В ходе обзора были найдены и описаны основные аспекты, влияющие на диагностику и лечение редких заболеваний, на разработку орфанных ЛП, качество их клинических исследований. Дополнительно были рассмотрены вопросы, касающиеся качества жизни пациентов. Кроме того, предложен ряд организационных и клинических решений по повышению прогнозируемости применения орфанных ЛП, позволяющих добиться большей определённости при их внедрении в практику.

Medicinal products (MPs) for treating rare (orphan) diseases are characterized by high uncertainty regarding clinical efficacy. This uncertainty is primarily attributed to the limited number of available and completed clinical trials and inconclusive data on efficacy. The purpose of this review was to describe the main issues related to the characteristics of orphan diseases, including the characteristics of clinical trials of orphan MPs, the orphan medicines themselves, ethical issues, and suggestions for possible solutions to these problems. This review identified and described the main aspects affecting the diagnosis and treatment of rare diseases, development of orphan MPs, and quality of clinical trials. In addition, issues related to quality of life were considered. 

Furthermore, some organizational and clinical solutions were suggested to reduce the uncertainty of the utilization of orphan MPs, allowing for greater clarity in their implementation in practice.

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