Newcastle University, Newcastle Upon Tyne, UK.
EURORDIS (Rare Diseases Europe), Paris, France.
Orphanet J Rare Dis. 2023 Sep 5;18(1):272. doi: 10.1186/s13023-023-02853-9.
Notwithstanding two decades of policy and legislation in Europe, aimed to foster research and development in rare conditions, only 5-6% of rare diseases have dedicated treatments. Given with the huge number of conditions classed as rare (which is increasing all the time), this equates to major unmet need for patients (over 30 million in the EU alone). Worryingly, the pace of Research and Innovation in Europe is lagging behind other regions of the world, and a seismic shift in the way in which research is planned and delivered is required, in order to remain competitive and-most importantly-bring meaningful, disease-altering treatments to those who desperately need them. The European Reference Networks (ERNs), launched in 2017, hold major potential to alleviate many of these challenges, and more, but only if adequately supported (financially, technically, and via robust policies and infrastructure) to realise that potential: and even then, only if able to forge robust collaborations harnessing the expertise, resources, knowledge and data of all stakeholders involved in rare disease, including Industry. To-date, however, ERN-Industry interactions have been largely limited, for a range of reasons (concerning barriers both tangible and perceived). This Position Statement analyses these barriers, and explains how Together4RD is seeking to move the needle here, by learning from case studies, exploring frameworks for collaboration, and launching pilots to explore how best to plan and deliver multistakeholder interactions addressing real research needs.
尽管欧洲有二十年的政策和立法旨在促进罕见病的研究和开发，但只有 5-6%的罕见病有专门的治疗方法。考虑到被归类为罕见病的情况数量巨大（而且还在不断增加），这意味着患者有巨大的未满足需求（仅欧盟就有超过 3000 万人）。令人担忧的是，欧洲的研究和创新步伐落后于世界其他地区，需要彻底改变研究的规划和实施方式，以保持竞争力，最重要的是，为那些急需治疗的患者带来有意义的、改变疾病的治疗方法。欧洲参考网络（ERNs）于 2017 年推出，具有缓解许多这些挑战的巨大潜力，但前提是得到充分支持（在财务、技术方面，以及通过稳健的政策和基础设施）以实现这一潜力：即使如此，只有能够建立强大的合作关系，利用所有参与罕见病的利益相关者的专业知识、资源、知识和数据，包括工业界，才能实现这一目标。然而，迄今为止，由于各种原因（包括有形和感知的障碍），ERN 与工业界的互动在很大程度上受到限制。本立场声明分析了这些障碍，并解释了 Together4RD 如何通过从案例研究中学习、探索合作框架以及启动试点来探索如何最好地规划和实施多利益相关者互动来解决实际研究需求，从而在此方面取得进展。
