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Abstract：
BACKGROUND: Evidence-based clinical practice is challenging in all fields, but poses special barriers in the field of rare diseases. The present paper summarises the main barriers faced by clinical research in rare diseases, and highlights opportunities for improvement.
METHODS: Systematic literature searches without meta-analyses and internal European Clinical Research Infrastructure Network (ECRIN) communications during face-to-face meetings and telephone conferences from 2013 to 2017 within the context of the ECRIN Integrating Activity (ECRIN-IA) project.
RESULTS: Barriers specific to rare diseases comprise the difficulty to recruit participants because of rarity, scattering of patients, limited knowledge on natural history of diseases, difficulties to achieve accurate diagnosis and identify patients in health information systems, and difficulties choosing clinically relevant outcomes.
CONCLUSIONS: Evidence-based clinical practice for rare diseases should start by collecting clinical data in databases and registries; defining measurable patient-centred outcomes; and selecting appropriate study designs adapted to small study populations. Rare diseases constitute one of the most paradigmatic fields in which multi-stakeholder engagement, especially from patients, is needed for success. Clinical research infrastructures and expertise networks offer opportunities for establishing evidence-based clinical practice within rare diseases.
METHODS: Systematic literature searches without meta-analyses and internal European Clinical Research Infrastructure Network (ECRIN) communications during face-to-face meetings and telephone conferences from 2013 to 2017 within the context of the ECRIN Integrating Activity (ECRIN-IA) project.
RESULTS: Barriers specific to rare diseases comprise the difficulty to recruit participants because of rarity, scattering of patients, limited knowledge on natural history of diseases, difficulties to achieve accurate diagnosis and identify patients in health information systems, and difficulties choosing clinically relevant outcomes.
CONCLUSIONS: Evidence-based clinical practice for rare diseases should start by collecting clinical data in databases and registries; defining measurable patient-centred outcomes; and selecting appropriate study designs adapted to small study populations. Rare diseases constitute one of the most paradigmatic fields in which multi-stakeholder engagement, especially from patients, is needed for success. Clinical research infrastructures and expertise networks offer opportunities for establishing evidence-based clinical practice within rare diseases.
摘要：
背景：循证临床实践在所有领域都具有挑战性，但在罕见疾病领域构成了特殊障碍。本文总结了罕见疾病临床研究面临的主要障碍，并强调改进的机会。
方法：在ECRIN整合活动（ECRIN-IA）项目的背景下，在2013年至2017年的面对面会议和电话会议期间，进行系统文献检索，不进行荟萃分析和内部欧洲临床研究基础设施网络（ECRIN）沟通。
结果：罕见疾病特有的障碍包括由于罕见而难以招募参与者，患者的散射，对疾病自然史的了解有限，在健康信息系统中实现准确诊断和识别患者的困难，以及选择临床相关结局的困难。
结论：罕见疾病的循证临床实践应首先收集数据库和注册数据库中的临床数据，确定可测量的以患者为中心的结果，并选择适合小研究人群的适当研究设计。罕见疾病是多方利益相关者参与的最典型的领域之一，尤其是病人，是成功所需要的。临床研究基础设施和专业知识网络为在罕见疾病中建立循证临床实践提供了机会。
方法：在ECRIN整合活动（ECRIN-IA）项目的背景下，在2013年至2017年的面对面会议和电话会议期间，进行系统文献检索，不进行荟萃分析和内部欧洲临床研究基础设施网络（ECRIN）沟通。
结果：罕见疾病特有的障碍包括由于罕见而难以招募参与者，患者的散射，对疾病自然史的了解有限，在健康信息系统中实现准确诊断和识别患者的困难，以及选择临床相关结局的困难。
结论：罕见疾病的循证临床实践应首先收集数据库和注册数据库中的临床数据，确定可测量的以患者为中心的结果，并选择适合小研究人群的适当研究设计。罕见疾病是多方利益相关者参与的最典型的领域之一，尤其是病人，是成功所需要的。临床研究基础设施和专业知识网络为在罕见疾病中建立循证临床实践提供了机会。
