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Nat Rev Drug Discov. 2020 Aug;19(8):495-496. doi: 10.1038/d41573-020-00060-w.
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Genomics of rare genetic diseases-experiences from India.罕见遗传病的基因组学:来自印度的经验。
Hum Genomics. 2019 Sep 25;14(1):52. doi: 10.1186/s40246-019-0215-5.
4
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.估算罕见病的累计点患病率:对孤儿药数据库的分析。
Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. Epub 2019 Sep 16.
5
The role of patient organizations in the rare disease ecosystem in India: an interview based study.患者组织在印度罕见病生态系统中的作用:基于访谈的研究。
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J Postgrad Med. 2018 Oct-Dec;64(4):195-199. doi: 10.4103/jpgm.JPGM_41_18.
7
Economic Modeling Considerations for Rare Diseases.经济模型在罕见病中的应用考虑
Value Health. 2018 May;21(5):515-524. doi: 10.1016/j.jval.2018.02.008. Epub 2018 Apr 17.

罕见病药物研发进展:是时候改变现状与刻板印象了。

Advances in orphan drug development: Time to change the status and stereotype.

作者信息

Thakur Sayanta

机构信息

Department of Pharmacology, Institute of Postgraduate Medical Education and Research, Kolkata, West Bengal, India.

出版信息

Perspect Clin Res. 2022 Jul-Sep;13(3):123-128. doi: 10.4103/picr.picr_193_21. Epub 2022 Jun 30.

DOI:10.4103/picr.picr_193_21
PMID:35928643
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9345260/
Abstract

Rare diseases remain a challenge for many of the countries in the world. The millions of people collectively suffering from rare diseases, in the context of raging COVID-19 pandemics globally, require an innovative and recent solution from different stakeholders. Regulatory bodies such as the Food and Drug Administration and the European Medicines Agency have come up with many different approaches including financial assistance to prompt drug development and approval. Novel approaches pertinent to clinical trials of such drugs such as patient centricity, early interaction with regulatory bodies, and establishing clinical outcome of interest have been experimented. Various international organizations including cross-country collaborators have initiated various projects or consortiums to bridge the gap between knowledge and practice. The challenges remain more pivotal in developing countries such as India, which has adopted few noteworthy initiatives by involving relevant stakeholders in the presence of limited resources, infrastructures, and a nascent regulatory framework. Therefore, it is imperative to revisit the key aspects of orphan drug development to fulfill the unmet needs of such patients suffering from various rare diseases.

摘要

罕见病对世界上许多国家来说仍是一项挑战。在全球新冠疫情肆虐的背景下,数百万罹患罕见病的患者需要不同利益相关者提供创新且及时的解决方案。美国食品药品监督管理局和欧洲药品管理局等监管机构已经提出了许多不同的方法,包括提供财政援助以推动药物研发和审批。针对此类药物的临床试验,人们尝试了多种新方法,如以患者为中心、与监管机构尽早互动以及确定感兴趣的临床结果。包括跨国合作方在内的各种国际组织已经启动了多个项目或联盟,以弥合知识与实践之间的差距。在印度等发展中国家,挑战更为关键,因为印度在资源、基础设施有限且监管框架尚不完善的情况下,仅采取了少数值得关注的举措,即让相关利益相关者参与进来。因此,必须重新审视孤儿药研发的关键方面,以满足罹患各种罕见病患者未得到满足的需求。