https://doi.org/10.4081/ejtm.2021.9610
0
0
0
0
Smart Citations0
0
0
0
Citing PublicationsSupportingMentioningContrasting
See how this article has been cited at scite.ai
scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.
Evaluation of orphan diseases global burden
Submitted: 15 January 2021
Accepted: 11 March 2021
Published: 14 May 2021
Accepted: 11 March 2021
Abstract Views: 1053
PDF: 610
HTML: 11
HTML: 11
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Orphan diseases is a significant socio-economic burden for both global and Russian health care systems. The global burden of disease metrics introduced by WHO, such as DALY, QALY, HALE, can be a useful tool for building economic models and prognoses, as well as medicine funding distribution. However, it is very difficult to standardize a heterogeneous group of rare diseases and it is difficult to talk about the cost-effective treatment options search, in cases where patients with an orphan disease may have only one pathogenetic therapy option. Much work needs to be done to find optimal treatment options and establish the standards of care necessary to maintain physical health, work capacity and quality of life.
Global burden of disease: Generation of evidence, policy direction. Health Metricsand Evaluation (IHME). University of Washington, Human Development Network, World Bank. Washington DC. 2013. 46 p. ISBN 978-0-9894752-5-9.
Kosyakova NV, Gavrilina NI. Orphan diseases - history of the issue and modern view of the problem. Modern problems of science and education. 2015; 2.
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January 2020 - Number 1. Available at: http://www.orpha.net/ orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
European Medicines Agency Annual report on the use of the special contribution for orphan medicinal products (2019) Available at: https://www.ema. europa.eu/en/documents/annual-report/annual-report-use-special-contribution-orphan-medicinal -products-2019_en.pdf.
Volkova N.S., Aksu E. Rare (orphan) diseases: legal regulation in Russia and abroad. Journal of Foreign Law and Comparative Law. 2018; 4 (71)
DOI: https://doi.org/10.12737/art.2018.4.20
Vasilieva TP, Zinchenko RA, Komarov IA, Krasilnikova EYu, Aleksandrova OYu, Konovalov G., Kutsev SI. The prevalence and diagnosis of rare (orphan) diseases in pediatric population of the Russian Federation. Pediatria n.a. G.N. Speransky. 2020; 99 (4): 229-237.
DOI: https://doi.org/10.24110/0031-403X-2020-99-4-229-237
Picavet E, Morel T, Cassiman D, Simoens S. Shining a light in the black box of orphan drug pricing. Orphanet J Rare Dis. 2014 Apr 27;9:62.
DOI: https://doi.org/10.1186/1750-1172-9-62
Yagudina RI, Molchanova NB. Analysis of healthcare system costs for drug therapy for patients with hemophilia A based on treatment standards, clinical guidelines and selected drug groups. Quality assurance issues for medicines. 2016; 3 (13): 29-41.
Kolbin AS, Vilyum IA, Proskurin MA, Balykina YE. [Pharmacoeconomic analysis of using mirabegron to treat overactive bladder in the setting of the Russian Federation health care]. Urologiia. 2016 Feb;(1):32-39. Russian.
Walker CE, Mahede T, Davis G, Miller LJ, Girschik J, Brameld K, Sun W, Rath A, Aymé S, Zubrick SR, Baynam GS, Molster C, Dawkins HJS, Weeramanthri TS. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genet Med. 2017 May;19(5):546-552.
DOI: https://doi.org/10.1038/gim.2016.143
Yoong SL, Hall A, Williams CM, Skelton E, Oldmeadow C, Wiggers J, Karimkhani C, Boyers LN, Dellavalle RP, Hilton J, Wolfenden L. Alignment of systematic reviews published in the Cochrane Database of Systematic Reviews and the Database of Abstracts and Reviews of Effectiveness with global burden-of-disease data: a bibliographic analysis. J Epidemiol Community Health. 2015 Jul;69(7):708-14.
DOI: https://doi.org/10.1136/jech-2014-205389
Vallabhaneni S, Mody RK, Walker T, Chiller T. The Global Burden of Fungal Diseases. Infect Dis Clin North Am. 2016 Mar;30(1):1-11.
DOI: https://doi.org/10.1016/j.idc.2015.10.004
WHO methods and data sources for global burden of disease estimates 2000-2016. Available at: https://www.who.int/healthinfo/global_burden_disease/GlobalDALY_method_2000_2016.pdf
GBD 2016 DALYs and HALE Collaborators. Global, regional, and national disability-adjusted life-years (DALYs) for 333 diseases and injuries and healthy life expectancy (HALE) for 195 countries and territories, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016. Lancet. 2017 Sep 16;390(10100):1260-1344. Erratum in: Lancet. 2017 Oct 28;390(10106):e38.
Hyry HI, Stern AD, Cox TM, Roos JC. Limits on use of health economic assessments for rare diseases. QJM. 2014 Mar;107(3):241-5.
DOI: https://doi.org/10.1093/qjmed/hcu016
Kontoghiorghe CN, Andreou N, Constantinou K, Kontoghiorghes GJ. World health dilemmas: Orphan and rare diseases, orphan drugs and orphan patients. World J Methodol. 2014 Sep 26;4(3):163-88.
DOI: https://doi.org/10.5662/wjm.v4.i3.163
Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development. Rare Diseases and Orphan Products: Accelerating Research and Development. Field MJ, Boat TF, editors. Washington (DC): National Academies Press (US); 2010..
How to Cite
Makarova, E. V., Krysanov, I. S., Valilyeva, T. P., Vasiliev, M. D., & Zinchenko, R. A. (2021). Evaluation of orphan diseases global burden. European Journal of Translational Myology, 31(2). https://doi.org/10.4081/ejtm.2021.9610
PAGEPress has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.
