ERN-EYE (represented by Hôpitaux Universitaires de Strasbourg) will transform the current Rare Eye Disease (RED) landscape in Europe, which consists of >24000 patients treated in our centres, suffering from >1000 ophthalmologic conditions, by developing an interoperable, sustainable and high-quality core patient registry for RED (i.e. REDgistry). With REDgistry, we will tackle the issues that impair the currently operational RED registries in the 13 ERN-EYE countries: lack of shared standards, absence of cross-registry interoperability, instable funding, legal uncertainty, inconsistent data quality, and absence of data sharing procedures.

Hence, we aim at i) creating a harmonised high-quality GDPR-compliant registry developed in accordance to the FAIR principles (i.e. Findable, Accessible, Interoperable and Reusable), ii) entering the ad hoc cases while controlling and evaluating the data, iii) ensuring its long-term sustainability, iv) engaging the key REDgistry stakeholders. These objectives will be achieved by 1) establishing a sound governance and long-term sustainability strategy, 2) developing and implementing the IT platform, and 3) entering, cleaning and evaluating the data.
REDgistry will enable the performance of epidemiology studies on RED, improve identification of currently undiagnosed RED patients, increase patient access to novel treatments and clinical trials, and enhance RED research capabilities through international cooperation, knowledge sharing and the future development of interoperable disease-specific registries. The final outputs of the REDgistry project will be an operational basic registry with a common dataset enrolled in the European Rare Disease Registry Infrastructure, a specific ophthalmic dataset, an established governance structure for the registry, a report on the preliminary epidemiology of RED in Europe, a dissemination & communication plan to raise awareness of REDgistry, and a sound economic plan to ensure its sustainability.
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ERN-EYE will set up a European Reference Network for Rare Eye Diseases (RED). RED is a large group rare diseases, with great genetic and phenotypical heterogeneity, and with complex or non-existing therapies. All together RED represent the first cause of blindness in children and young adults. Patient groups are highly involved in stimulating innovation towards clinical trials. The medical care organisation in the field of RED has remained centred at a national level, thus creating inequalities in care. The mission of ERN-EYE is to bring together knowledge, new and existing resources and expertise across the EU to facilitate access to a better, multidisciplinary, safer, high-quality, cost-effective, and cross-border healthcare system for all the European citizens affected by RED.
The heart of ERN-EYE lies in the creation of a virtual Rare Eye Diseases Clinic: EyeClin. Eyeclin will encompass the main subspecialties with RED at the level of the retina, the anterior segment, paediatrics and neuropathology. Genetic testing will be a major transversal topic as well as low vision aids. Via EyeClin, the European healthcare providers will have access to the available EU resources, knowledge and expertise. Furthermore, ERN-EYE will share and spread information and knowledge within and outside the network, collaborating closely at national and international level. Main activities within ERN-EYE will include a dedicated training programme; clinical guidelines and best clinical practices; launching and support for registries for epidemiology surveillance, clinical trial empowerment; sharing of information about highly innovative genetic tests and bottom-up research projects.
Overall, ERN-EYE will be an EU hub aiming to deliver high quality and accessible healthcare for patients with an emphasis on rapid translation of medical progresses with the maximum coverage at the EU level.

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