Aridhia Digital Research Environment, Glasgow, UK.
Aridhia Bioinformatics, 163 Bath Street, Glasgow, G2 4SQ, United Kingdom.
J Pharmacokinet Pharmacodyn. 2023 Dec;50(6):507-519. doi: 10.1007/s10928-023-09859-7. Epub 2023 May 2.
Rare disease drug development is wrought with challenges not the least of which is access to the limited data currently available throughout the rare disease ecosystem where sharing of the available data is not guaranteed. Most pharmaceutical sponsors seeking to develop agents to treat rare diseases will initiate data landscaping efforts to identify various data sources that might be informative with respect to disease prevalence, patient selection and identification, disease progression and any data projecting likelihood of patient response to therapy including any genetic data. Such data are often difficult to come by for highly prevalent, mainstream disease populations let alone for the 8000 rare disease that make up the pooled patient population of rare disease patients. The future of rare disease drug development will hopefully rely on increased data sharing and collaboration among the entire rare disease ecosystem. One path to achieving this outcome has been the development of the rare disease cures accelerator, data analytics platform (RDCA-DAP) funded by the US FDA and operationalized by the Critical Path Institute. FDA intentions were clearly focused on improving the quality of rare disease regulatory applications by sponsors seeking to develop treatment options for various rare disease populations. As this initiative moves into its second year of operations it is envisioned that the increased connectivity to new and diverse data streams and tools will result in solutions that benefit the entire rare disease ecosystem and that the platform becomes a Collaboratory for engagement of this ecosystem that also includes patients and caregivers.
罕见病药物开发面临诸多挑战,其中最主要的是难以获取目前在整个罕见病生态系统中有限的数据,因为无法保证这些数据可以得到共享。大多数寻求开发治疗罕见病药物的制药赞助商将启动数据摸底工作,以确定可能对疾病流行率、患者选择和识别、疾病进展以及任何预测患者对治疗反应可能性的信息(包括任何遗传数据)具有参考价值的各种数据源。对于高度流行的主流疾病患者群体来说,此类数据往往难以获取,更不用说 8000 种罕见病患者组成的罕见病患者群体了。罕见病药物开发的未来有望依赖于整个罕见病生态系统内的数据共享和协作的增加。实现这一目标的途径之一是开发由美国 FDA 资助、关键路径研究所运营的罕见病治疗加速、数据分析平台(RDCA-DAP)。FDA 的意图显然是通过寻求为各种罕见病患者群体开发治疗方案的赞助商,来提高罕见病监管申请的质量。随着该倡议进入运营的第二年,预计与新的和多样化的数据流和工具的连接将产生有利于整个罕见病生态系统的解决方案,该平台将成为该生态系统的协作平台,其中还包括患者和护理人员。