启动罕见眼病多层次数据战略：从国家到欧洲尺度的方法案例研究

摘要(中文译文)

罕见眼病因其异质性、低患病率以及专业知识的分散，在临床研究和患者照护方面带来了独特挑战。为应对这些挑战，法国和欧洲已开发了一套整合的多层次数据策略，实现了在国家和跨国倡议之间结构化、可互操作的数据采集与再利用。本文中，我们提出了一个以“宇宙飞船”为隐喻的方法学框架，用以说明该生态系统从国家基础设施到欧洲平台的纵向衔接。宇宙飞船的底层是BaMaRa，即法国国家罕见病登记系统，其确保在诊疗现场系统性地采集核心临床数据。上一层是FREDD，这是一个专用于罕见眼病的疾病特异性数据仓库，由SENSGENE网络在法国2030 RaReTiA项目支持下开发。FREDD整合了细粒度的表型和基因型数据，支持深入研究和队列构建。FREDD与BaMaRa完全互操作，确保数据一致性并最大限度减少冗余。宇宙飞船的第三层是REDgistry，即由ERN-EYE协调的欧洲罕见眼病登记系统。REDgistry支持跨境数据协调，并遵循FAIR原则，以促进国际研究中的数据共享和二次利用。该结构的顶层是欧洲健康数据空间，这是一个未来平台，可在欧盟层面实现安全、标准化的健康数据访问，用于研究和政策制定。该架构的核心仍然是患者，其数据是整个系统的基础。尽管患者并非总是积极参与数据采集，但其始终是每个数据层目的和结构的中心。建设和维持如此复杂的基础设施需要广泛利益相关方的协调，包括临床医生、研究网络、数据管理员、医院信息技术部门、国家主管部门和欧洲机构。这一多层次模型的成功取决于共享标准、透明治理以及所有参与者之间的持续协作。它们共同构成宇宙飞船的推进系统，实现高质量数据的结构化再利用，以加速罕见眼病领域的研究并改善照护。

Abstract

Rare eye diseases bring unique challenges in clinical research and patient care due to their heterogeneity, low prevalence, and dispersed expertise. To address these challenges, an integrated multilevel data strategy has been developed in France and Europe, enabling structured, interoperable data collection and reuse across national and transnational initiatives. In this paper, we present a methodological framework using the metaphor of a spaceship to illustrate the vertical articulation of this ecosystem, from national infrastructures to European platforms. At the base of the spaceship lies BaMaRa, France's national registry for rare diseases, which ensures the systematic collection of core clinical data at the point of care. The next stage is FREDD, a disease-specific data warehouse dedicated to rare eye conditions, developed by the SENSGENE network thanks to the France 2030 RaReTiA project. FREDD integrates granular phenotypic and genotypic data, allowing for in-depth research and cohort building. FREDD is fully interoperable with BaMaRa, ensuring data consistency and minimizing redundancies. The third level of the spaceship is REDgistry, the European registry for rare eye diseases coordinated by ERN-EYE. REDgistry allows for cross-border data harmonization and aligns with FAIR principles to facilitate data sharing and secondary use in international research. At the top of the structure is the European Health Data Space, a future platform enabling secure and standardized access to health data for research and policy-making at the EU level. At the core of this architecture remains the patient, whose data is the very foundation of the system. Although not always actively involved in data collection, the patient remains central to the purpose and structure of each data layer. Building and sustaining such a complex infrastructure requires the coordination of a wide range of stakeholders, including clinicians, research networks, data stewards, hospital IT departments, national authorities, and European institutions. The success of this multilevel model depends on shared standards, transparent governance, and sustained collaboration across all actors. Together, they form the propulsion system of the spaceship, enabling the structured reuse of high-quality data to accelerate research and improve care in the field of rare eye diseases.

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