Data silos are undermining drug development and failing rare disease patients.
Data silos are undermining drug development and failing rare disease patients.
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DOI：
10.1186/s13023-021-01806-4
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发表时间：
2021-04-07
影响因子：
3.7
通讯作者：
Marsh ED
中科院分区：
文献类型：
--
作者：
Denton N;Molloy M;Charleston S;Lipset C;Hirsch J;Mulberg AE;Howard P;Marsh ED
随着许多临床描述的病因不明的疾病的遗传和免疫学进步，数据孤岛正在激增，而研究和开发活动呈爆炸式增长。后一事件激发了患者、临床和研究界的乐观情绪，认为针对疾病的治疗即将到来。然而，我们担心，在当前经济和学术激励的推动下，各利益相关者倾向于以专有格式划分数据库，这将不可避免地破坏不断扩大的知识库，并破坏当前和未来开发急需治疗方法的研究工作。专有数据库的激增，再加上缺乏有意义的结果测量和/或良好的自然历史数据，降低了我们生成可扩展解决方案的能力，从而以转化为更常见疾病的方式造福长期服务不足的患者群体。当前的研究和开发环境设置了太多的项目，导致不必要的失败，特别是在罕见疾病领域，并对高度脆弱的患者造成严重伤害。该系统还鼓励在不协调的并行研究和登记中收集冗余数据，以最终延迟或拒绝表面上可治疗疾病的潜在治疗；它还造成宝贵时间、精力和资源的浪费。美国国立卫生研究院和食品药品管理局的小组已经启动了解决这些问题的计划。然而，我们和许多其他人认为应该就如何协调和扩大注册管理机构工作进行更多的讨论。此类讨论旨在减少不必要的复杂性和重复工作，并促进罕见病药物开发的竞争前知识生态系统，以培育和加速创新。
Data silos are proliferating while research and development activity explode following genetic and immunological advances for many clinically described disorders with previously unknown etiologies. The latter event has inspired optimism in the patient, clinical, and research communities that disease-specific treatments are on the way. However, we fear the tendency of various stakeholders to balkanize databases in proprietary formats, driven by current economic and academic incentives, will inevitably fragment the expanding knowledge base and undermine current and future research efforts to develop much-needed treatments. The proliferation of proprietary databases, compounded by a paucity of meaningful outcome measures and/or good natural history data, slows our ability to generate scalable solutions to benefit chronically underserved patient populations in ways that would translate to more common diseases. The current research and development landscape sets too many projects up for unnecessary failure, particularly in the rare disease sphere, and does a grave disservice to highly vulnerable patients. This system also encourages the collection of redundant data in uncoordinated parallel studies and registries to ultimately delay or deny potential treatments for ostensibly tractable diseases; it also promotes the waste of precious time, energy, and resources. Groups at the National Institutes of Health and Food and Drug Administration have started programs to address these issues. However, we and many others feel there should be significantly more discussion of how to coordinate and scale registry efforts. Such discourse aims to reduce needless complexity and duplication of efforts, as well as promote a pre-competitive knowledge ecosystem for rare disease drug development that cultivates and accelerates innovation.
影响因子：
11.2
作者：
Kotulska K;Kwiatkowski DJ;Curatolo P;Weschke B;Riney K;Jansen F;Feucht M;Krsek P;Nabbout R;Jansen AC;Wojdan K;Sijko K;Głowacka-Walas J;Borkowska J;Sadowski K;Domańska-Pakieła D;Moavero R;Hertzberg C;Hulshof H;Scholl T;Benova B;Aronica E;de Ridder J;Lagae L;Jóźwiak S;EPISTOP Investigators
通讯作者：
EPISTOP Investigators
影响因子：
5.2
作者：
Wakap, Stephanie Nguengang;Lambert, Deborah M.;Rath, Ana
通讯作者：
Rath, Ana