PDF(Pubmed)
Abstract：
Many patients with rare diseases are still lacking a timely diagnosis and approved therapies for their condition despite the tremendous efforts of the research community, biopharmaceutical, medical device industries, and patient support groups. The development of clinical research networks for rare diseases offers a tremendous opportunity for patients and multi-disciplinary teams to collaborate, share expertise, gain better understanding on specific rare diseases, and accelerate clinical research and innovation. Clinical Research Networks have been developed at a national or continental level, but global collaborative efforts to connect them are still lacking. The International Rare Diseases Research Consortium set a Task Force on Clinical Research Networks for Rare Diseases with the objective to analyse the structure and attributes of these networks and to identify the barriers and needs preventing their international collaboration. The Task Force created a survey and sent it to pre-identified clinical research networks located worldwide.
A total of 34 responses were received. The survey analysis demonstrated that clinical research networks are diverse in their membership composition and emphasize community partnerships including patient groups, health care providers and researchers. The sustainability of the networks is mostly supported by public funding. Activities and research carried out at the networks span the research continuum from basic to clinical to translational research studies. Key elements and infrastructures conducive to collaboration are well adopted by the networks, but barriers to international interoperability are clearly identified. These hurdles can be grouped into five categories: funding limitation; lack of harmonization in regulatory and contracting process; need for common tools and data standards; need for a governance framework and coordination structures; and lack of awareness and robust interactions between networks.
Through this analysis, the Task Force identified key elements that should support both developing and established clinical research networks for rare diseases in implementing the appropriate structures to achieve international interoperability worldwide. A global roadmap of actions and a specific research agenda, as suggested by this group, provides a platform to identify common goals between these networks.
A total of 34 responses were received. The survey analysis demonstrated that clinical research networks are diverse in their membership composition and emphasize community partnerships including patient groups, health care providers and researchers. The sustainability of the networks is mostly supported by public funding. Activities and research carried out at the networks span the research continuum from basic to clinical to translational research studies. Key elements and infrastructures conducive to collaboration are well adopted by the networks, but barriers to international interoperability are clearly identified. These hurdles can be grouped into five categories: funding limitation; lack of harmonization in regulatory and contracting process; need for common tools and data standards; need for a governance framework and coordination structures; and lack of awareness and robust interactions between networks.
Through this analysis, the Task Force identified key elements that should support both developing and established clinical research networks for rare diseases in implementing the appropriate structures to achieve international interoperability worldwide. A global roadmap of actions and a specific research agenda, as suggested by this group, provides a platform to identify common goals between these networks.
摘要：
背景：尽管研究界付出了巨大的努力，但许多罕见疾病患者仍缺乏及时的诊断和批准的治疗方法。生物制药，医疗器械行业，患者支持团体。罕见疾病临床研究网络的发展为患者和多学科团队提供了巨大的合作机会，分享专业知识,更好地了解特定的罕见疾病，加快临床研究和创新。临床研究网络已经在国家或大陆层面发展起来，但是仍然缺乏将它们联系起来的全球合作努力。国际罕见疾病研究联盟成立了一个罕见疾病临床研究网络工作队，目的是分析这些网络的结构和属性，并确定阻碍其国际合作的障碍和需求。工作组创建了一项调查，并将其发送到位于全球的预先确定的临床研究网络。
结果：共收到34份回复。调查分析表明，临床研究网络的成员组成是多样化的，并强调社区伙伴关系，包括患者团体，医疗保健提供者和研究人员。网络的可持续性主要由公共资金支持。在网络上进行的活动和研究涵盖了从基础到临床再到转化研究的研究连续体。网络很好地采用了有利于合作的关键要素和基础设施，但是国际互操作性的障碍是明确的。这些障碍可分为五类:资金限制；监管和订约进程缺乏协调；需要通用工具和数据标准；需要治理框架和协调结构；缺乏意识和网络之间的强有力互动。
结论：通过此分析，工作队确定了关键要素，这些要素应支持开发和建立罕见疾病临床研究网络，以实施适当的结构，以实现全球的国际互操作性。全球行动路线图和具体研究议程，正如这个小组所建议的那样，提供了一个平台来识别这些网络之间的共同目标。
结果：共收到34份回复。调查分析表明，临床研究网络的成员组成是多样化的，并强调社区伙伴关系，包括患者团体，医疗保健提供者和研究人员。网络的可持续性主要由公共资金支持。在网络上进行的活动和研究涵盖了从基础到临床再到转化研究的研究连续体。网络很好地采用了有利于合作的关键要素和基础设施，但是国际互操作性的障碍是明确的。这些障碍可分为五类:资金限制；监管和订约进程缺乏协调；需要通用工具和数据标准；需要治理框架和协调结构；缺乏意识和网络之间的强有力互动。
结论：通过此分析，工作队确定了关键要素，这些要素应支持开发和建立罕见疾病临床研究网络，以实施适当的结构，以实现全球的国际互操作性。全球行动路线图和具体研究议程，正如这个小组所建议的那样，提供了一个平台来识别这些网络之间的共同目标。
