PREVALENCE AND DIAGNOSIS OF RARE (ORPHAN) DISEASES IN PEDIATRIC POPULATION OF THE RUSSIAN FEDERATION

2020 ◽  
Vol 99 (4) ◽  
pp. 229-237
Author(s):  
T.P. Vasilieva ◽  
◽  
R.A. Zinchenko ◽  
I.A. Komarov ◽  
E.Yu. Krasilnikova ◽  
...  
Keyword(s):  
Russian Federation ◽  
Pediatric Population ◽  
Orphan Diseases ◽  
The Russian Federation

Comparison and analysis of the fda approved orphane drugs registerand the vital and essential drugs list of the Russian Federation

2020 ◽  
pp. 4-16
Author(s):  
D.S. Yurochkin ◽  
◽  
A.A. Leshkevich ◽  
Z.M. Golant ◽  
I.A. NarkevichSaint ◽  
...  
Keyword(s):  
United States ◽  
Russian Federation ◽  
Rare Diseases ◽  
Orphan Drugs ◽  
The United States ◽  
Orphan Diseases ◽  
Essential Drugs ◽  
The Russian Federation ◽  
Comparison And Analysis ◽  
The Government

The article presents the results of a comparison of the Orphan Drugs Register approved for use in the United States and the 2020 Vital and Essential Drugs List approved on October 12, 2019 by Order of the Government of the Russian Federation No. 2406-r. The comparison identified 305 international non-proprietary names relating to the main and/or auxiliary therapy for rare diseases. The analysis of the market of drugs included in the Vital and Essential Drugs List, which can be used to treat rare (orphan) diseases in Russia was conducted.

Features of the organization of the provision of medicines for the treatment of orphan diseases in the Russian Federation

2020 ◽  
Vol 23 (1) ◽  
pp. 22
Author(s):  
R.U. Khabriev ◽  
A.V. Grechko ◽  
V.S. Malichenko ◽  
Yu.N. Kashevarova ◽  
N.S. Volkova
Keyword(s):  
Russian Federation ◽  
Orphan Diseases ◽  
The Russian Federation

Study of the availability of gene therapeutic drugs in the Russian Federation

2021 ◽  
pp. 69-75
Author(s):  
Konstantin A. Koshechkin ◽  
Philip A. Romanov ◽  
Alexander A. Mokhov ◽  
Alexander L. Khokhlov
Keyword(s):  
Gene Therapy ◽  
Russian Federation ◽  
World Literature ◽  
World Market ◽  
European Market ◽  
Orphan Diseases ◽  
Therapeutic Drugs ◽  
The World ◽  
The Usa ◽  
The Russian Federation

The authors studied the availability of gene therapy drugs in the Russian Federation on the basis of information on the permission of the medical use of drugs of this group in the world. Literature data and information about medicines approved by the FDA, EMA and the Ministry of Health of Russia were used. In general, the FDA registered only 13 drugs (46%) of the total approved for medical use in the world, 2 of them have already been withdrawn from the market, and 2 additional clinical trials are underway. In Europe, the EMA has approved 16 drugs for medical use (57%), with 4 of them already withdrawn. Most of the drugs were first approved by the FDA, and then, on average, a year later, were approved in the European market. A total of 4 drugs were approved in the European market and were not approved by the FDA at the time the data was requested. And only 1 drug, approved in the USA, is not registered in Europe. In the Russian Federation, two medicines are allowed, Neovasculgen (2011) and Spinraza (2019). This is only 7% of the total number of gene therapy drugs on the world market. Most of the drugs are intended for the treatment of orphan diseases and are cost expensive. This can explain the unevenness of their distribution across regions.

Medical Care for Children with Cancer in the North-West Federal District of the Russian Federation: An Ecological Study

2018 ◽  
Vol 5 (3) ◽  
pp. 155-163 ◽  
Author(s):  
M. Yu. Rykov ◽  
I. A. Turabov
Keyword(s):  
Medical Care ◽  
Russian Federation ◽  
Care Delivery ◽  
Pediatric Population ◽  
Federal District ◽  
Children With Cancer ◽  
North West ◽  
The North ◽  
Bed Capacity ◽  
The Russian Federation

Background.Analysis of statistical data in the federal districts of the Russian Federation provides opportunities to assess the quality of medical care delivery in children with cancer and plan further development with consideration for the point elimination of existing defects. Objective. Our aim was to analyze the main indicators characterizing medical care for children with cancer in the North-West Federal District.Methods.The study analyzed operative reports for 2017 provided by the executive public health authorities of 11 subjects of the Russian Federation affiliated to the North-West Federal District.Results.The pediatric population was 2 537 133 children (0–17 years), the pediatric oncological bed capacity — 174 (0.7 per 10 000 aged 0–17 years), the annual berth average occupancy — 290.7 days. 6 (54.5%) subjects did not provide pediatric population with departments of pediatric oncology, 4 (36.4%) subjects did not have bed capacity. The number of practitioners providing medical care to children with cancer was 38, 27 among them (71%; 0.1 per 10 thousand 0–17 years) had a certificate of pediatric oncologist. 2 (18.2%) subjects did not have pediatric oncologists in the medical stuff. The incidence of malignant tumors in children aged 0–17 was 15.6 (per 100,000), the prevalence was 92.6 (per 100,000), the mortality rate was 2.6 (per 100,000), one-year mortality rate — 4.5% (18/397). The number of patients identified actively was 11 (2.8%). 160 (40.3%) primary patients were sent to Federal medical facilities, 6 (1.5%) — left the territory of the Russian Federation for the further treatment.Conclusion.The incidence and mortality rates are rather low which indicates the defects in patient detection and lack of reliable follow-up data. The percentage of patients referred for treatment to Federal medical facilities is not very high; however, to interpret this indicator according to patient routing, we have to analyze the medical history of all the patients. We can assert that health care delivery service for children with oncological diseases is at an acceptable standard level but needs to be improved. 

scholarly journals Analysis of the prevalence of rare (orphan) diseases («List 24») and the dynamics of detection of children's patients in the subjects of the Russian Federation

2020 ◽  
pp. 25-26
Author(s):  
И.А. Комаров ◽  
Е.Ю. Красильникова ◽  
О.Ю. Александрова ◽  
Р.А. Зинченко ◽  
С.И. Куцев
Keyword(s):  
Russian Federation ◽  
Orphan Diseases ◽  
Annual Increase ◽  
Federal Register ◽  
The Russian Federation ◽  
Low Prevalence ◽  
Timely Treatment

Проведен анализ распространенности редких (орфанных) заболеваний («Перечень 24») и динамики выявляемости пациентов детского возраста в 85 регионах РФ в период 2013-2019 гг. Показан ежегодный прирост пациентов в Федеральном регистре (2013 г. - 4962 больных, 2014 г. - 6761, 2015 г. - 7038, 2016 г. - 7625, 2017 г. - 8245, 2018 г. - 8639, 2019 г. - 9088). Динамика доли детей с заболеваниями из «Перечня 24» среди всех больных колебалась в небольших пределах (в среднем 50%). Большинством заболеваний (16 из 24) болеют в основном дети, но они встречаются также у взрослых. Распространенность заболеваний значительно варьировала между субъектами РФ. Улучшение информированности, а также ведение Федерального регистра способствуют эффективной выявляемости и своевременному назначению терапии в детском возрасте. Однако низкие значения распространенности заболеваний, проявляющихся до 1-го года жизни, говорят о сложностях их диагностики и недостаточной выявляемости. The analysis of the prevalence of rare (orphan) diseases («List of 24») and the dynamics of detection of children’s patients in 85 subjects of the Russian Federation in the period 2013-2019 showed an annual increase in patients in the Federal register (2013 - 4962 patients, 2014 - 6761, 2015 - 7038, 2016 - 7625, 2017 - 8245, 2018 - 8639, 2019 - 9088). The dynamics of the share of children with diseases from the “List of 24” among all patients fluctuated within small limits (on average 50%). Most of the diseases (16 out of 24) are mostly between children, but they also occur in adults. The prevalence of diseases varied significantly between the subjects of the Russian Federation. Improving awareness, as well as maintaining a Federal register promote effective detection and timely treatment in children. However, the low prevalence of diseases that occur before the 1st year of life indicates the complexity of their diagnosis and lack of detection.

Current problems of providing medical care for patients with orphan diseases in the Russian Federation

2020 ◽  
pp. 13-20
Author(s):  
А.Я. Гайдук ◽  
Я.В. Власов ◽  
Е.Ю. Захарова
Keyword(s):  
Medical Care ◽  
Russian Federation ◽  
Models Of Care ◽  
Diagnostic Methods ◽  
Orphan Diseases ◽  
Screening Programs ◽  
Medical Environment ◽  
Lack Of Information ◽  
Life Threatening ◽  
The Russian Federation

В статье обобщен опыт помощи пациентам с редкими заболеваниями, история развития «орфанной» медицины, проводится обзор зарубежных стратегий и основополагающих документов, формирующих современные модели оказания помощи пациентам с орфанными заболеваниями. Освещаются проблемы оказания медицинской помощи данной группе пациентов в Российской Федерации, в том числе в рамках программ «14 высокозатратных нозологий» и «17 нозологий» (17 жизнеугрожающих хронических прогрессирующих редких (орфанных) заболеваний), анализируются механизмы финансирования лекарственного обеспечения, их правовые основы, а также роль медико-генетической службы, как ключевого элемента в системе оказания медицинской помощи пациентам с редкими болезнями. В работе также приведен анализ региональных российских и зарубежных скрининг-программ, обзор актуальных диагностических методов и опыта их внедрения и использования. Авторы также затрагивают вопросы, касающиеся биотехнологических инноваций в российской и зарубежной медицине, подчёркивая актуальность, эффективность и, в некоторых случаях, незаменимость генной терапии. В заключение авторы резюмируют наиболее значимые задачи, стоящие перед орфанной медициной в Российской Федерации, а также вносят предложения по их решению. The article summarizes the world experience in helping patients with rare diseases, the history of the development of “orphan” medicine, reviews foreign strategies and the fundamental documents that form the modern foreign models of care for patients with orphan diseases. The problems of providing medical care to this group of patients in the Russian Federation are highlighted, including in the framework of the programs “14 high-cost nosologies” and “17 nosologies” (17 life-threatening chronic progressive rare (orphan) diseases). The difficulties associated with the operation of the existing system of medical care for orphan patients are highlighted, including data on assessing the lack of information on management and on the procedure for providing information about patients with rare nosologies to the appropriate structures in the medical environment. The work also analyzes regional Russian and foreign screening programs, a review of relevant diagnostic methods and the experience of their implementation and use. The authors also address issues related to biotechnological innovations in Russian and foreign medicine, emphasizing the relevance, effectiveness and, in some cases, the indispensability of gene therapy. In conclusion, the authors summarize the most significant issues and challenges facing orphan medicine in the Russian Federation, as well as make suggestions for their solution.

scholarly journals Epilemiological characteristics of Diamond–Blackfen anemia in pediatric population of the Russian Federation

2019 ◽  
Vol 18 (3) ◽  
pp. 22-28
Author(s):  
V. M. Chernov ◽  
G. S. Ovsyannikova ◽  
M. B. Yudina ◽  
A. V. Rogov ◽  
N. E. Sokolova ◽  
...  
Keyword(s):  
Russian Federation ◽  
Pediatric Population ◽  
Bone Marrow Failure ◽  
Federal District ◽  
Epidemiological Data ◽  
Pediatric Hematology ◽  
National Medical ◽  
Number Of Patients ◽  
The Russian Federation ◽  
Observation Period

Diamond–Blackfen Anemia (DBA) is a rare, clinically and genetically heterogeneous disorder from the group of congenital syndromes of bone marrow failure. The purpose of this work is to identify the main medical-frequency characteristics of DBA (incidence, prevalence, mortality, cartographic analysis) in children in the Russian Federation during the observation period 2011–2016. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology. The Russian register of DBA patients, which had been developed and maintained since 2012 year by NMITS DGOI, was used to obtained epidemiological data and their analysis. At the end of 2018 year 141 patients from 137 families were included in the register. The average annual incidence rate of children with DBA for the Russian Federation was 0.63 ± 0.034, the average annual prevalence rate – 5.75 ± 0.87 per 100 thousand newborns born alive; mortality rate – 2.12%; the cartographic method of research showed that the largest number of patients was registered in the Central Federal District of the country, which is explained by the high population living in this district.

scholarly journals Drug demand satisfaction of patients with idiopathic pulmonary arterial hypertension

2019 ◽  
pp. 18-22
Author(s):  
E. Yu. Krasilnikova ◽  
I. A. Komarov
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Russian Federation ◽  
Idiopathic Pulmonary Arterial Hypertension ◽  
Orphan Diseases ◽  
Study Objective ◽  
Level Of Satisfaction ◽  
Life Threatening ◽  
Pulmonary Arterial ◽  
The Russian Federation

Objective. The study objective is to analyze data of territorial subjects of the Russian Federation on idiopathic pulmonary arterial hypertension (IPAH) – nosology included in the list of life threatening and chronic advanced rare (orphan) diseases leading to the reduction in life expectancy of citizens or to their disability.Methods: Based on regulatory legal acts and federal patients registry we have analyzed morbidity and mortality, level of satisfaction with medicines supply and medicines supply expenses for patients with IPAH.Results: Criteria of level of satisfaction with drugs availability in patients with rare (orphan) diseases are suggested. Satisfaction with medicines supply is measured up against indicators and objectives of “Strategies for drug supply for the population of the Russian Federation for the period up to 2025 and a plan for its implementation”.Conclusions: The need for further improvement of regulations of orphan diseases sphere, i.e. revision of their list and regional programs creation, is justified.

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