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ERN-EYE [ERN-EYE] [769057] - Operating Grant
Project abstract

Rare Eye Diseases (RED) represent a wide group of rare diseases that display great genetic and phenotypical heterogeneity, while their epidemiology remains mainly unclear. RED affect a limited number of patients which are dispersed geographically and are the leading cause of visual impairment/visual loss in children and young adults in the EU. Currently the limited number of patients in combination with the scarcity of relevant knowledge, resources and expertise represent major barriers to early diagnosis, access to proper care and optimal treatment, and to the improvement of medical expertise, specialized training and research. However, visual impairment/visual loss poses a huge social-economic burden on individuals, the healthcare system and the society. ERN-EYE is dedicated to provide best care for EU RED patients.
By bringing together knowledge, new and existing resources and expertise across the EU, ERN-EYE mission is to facilitate access to a better, safer, high-quality, cost-effective, and cross-border healthcare system for all these European citizens with RED. ERN-EYE currently consists of 29 healthcare providers originating from 13 Member States and will cover mainly genetically-based RED. The heart of the ERN-EYE project lies in the creation of a virtual Rare Eye Diseases Clinic: EyeClin. As such, EyeClin will bring expertise to all EU citizens affected (or suspected to be affected) by a RED and will allow them secondary participation to initiatives generated or recognized by the ERN (registries, research, trials, etc.) EyeClin has been subdivided in 4 clinical departments: retinal RED, paediatric RED, neuro-ophthalmology RED, anterior segment RED, comparable to the ones found in a standard university hospital and 6 transversal departments corresponding to: genetic diagnosis, research activities, registries, guidelines, dissemination and outreach, medical training and teaching.

Summary of context, overal objectives, strategic, relevance and contribution of the action

European Reference Networks (ERNs) are cross-border cooperation platforms that brings together Health Care Providers (HCP’s) across the European Union (EU) to tackle complex or rare medical conditions in the scope of EU Directive on Patients' Rights in Healthcare (2011/24/EU). ERN-EYE is dedicated to Rare Eye Diseases (RED), counts 29 HCPs in 13 EU Member States (MS) . To cover RED that are highly heterogeneous (900 entities) and often lacking specific treatments, ERN-EYE aims to give access to the same standard of health care, relevant knowledge, expertise and resources to patients in the EU.

Methods and means

Internal organisation : ERN-EYE is managed by the coordinator’s team in the Strasbourg University Hospital by a Project Management Team (PMT) with a project manager and a part time communication officer. The PMT has launched the organisation of the ERN with 4 Work Groups (WG) (retinal, neuro-ophthalmology, paediatric, anterior segment) and 6 Transversal Work Groups (TWG) (low-vision, genetic testing, registries, research, education, ..).
A governance board and a coordinating committee have been set and met regularly by web conferences.
ERN-EYE PMT programmed the annual main meetings. PMT is in charge of the annual strategy fitting the 5 years, 2017 being the inventory phase.
External organisation methods: the PMT works closely with the EC, all ERN’s and other stakeholders by attending ad hoc meetings and WGs. Outreach to health professionals, patients, and the public at large has been elaborated by using ad hoc communication tools: printed media, digital supports) and supports for scientific communication.

Work performed during the reporting period

General administrative and logistic tasks: The administrative work has been performed by the PMT based on the ERN-EYE’s engagements (annual report , elaboration of the annual program, connection with the EC - patient groups & other partners, meeting reports and minutes, … ). This work includes budget monitoring with the coordinator’s HCPs. The PMT organises regular exchanges for all including web conferences (coordinating committee, specific matters, …) and training webinars .
ERN-EYE meetings organisation: In 2017 the ERN-EYE PMT has fully organised 2 major events: 1) the 1st annual meeting hosted by the Tübingen University Hospital (Germany); 2) the ontology workshop (Mont Sainte-Odile, France). The PMT had in charge the global organisation of both events (booking of meeting room/Hotel, specific web site page, multimedia connections, agenda of the event, minutes, … ).
ERN-EYE 2017 specific action plan: the PMT coordinated the inventory/mapping of the currently ERN-EYE resources through 7 on line surveys regarding specific topics: IT tools, registries, patient associations, on going and planned clinical trials, existing guidelines, research groups, training programs, …
ERN-EYE Work on Communication: PMT took care or provided assistance for the introductive presentations of ERN-EYE at medical & scientific meetings, elaborated an ERN-EYE newsletter and a dedicated website ( as well as regular presence on social networks.
ERN-EYE work on the CPMS (Case Patients Management System) launching: the EC has provided a CPMS as a common tool to all ERNs. Launched in December 2017, the system is under testing phase. The PMT was in charge of the training and assistance of the ERN-EYE members in the current test phase. ERN-EYE PMT has provided in October 2017 a customized list of ophthalmic items to be integrated.

The main output achieved so far and their potential impact and use by target group (including benefits)

To the Medical and scientific Communities . With 11 communications in ad hoc congresses, we disseminated the launch, mission and vision of ERN-EYE. For this 1st year, emphasis was given to communicate about:
• how the CPMS will help for diagnosis and care of RED patients
• the importance of a standardised ontology and classification of RED for future use in registries, CPMS, trials, …
• identification of the unmet needs and unequal distributions of resources linked to current and future services of ERN-EYE
• research unmet needs and opportunities

To Patients and Patient associations, with 4 dedicated meetings with EU patients groups and the website, we disseminated the launch of ERN-EYE and how we will help patients
To General public, the major objective was to increase citizen awareness and interest in RED by disseminating the purpose of ERN-EYE by communicating our website, press releases and during 2 events during the Rare Disease Day.
To all other stakeholders , for instance exchanges requested by industrial parties specialized in RED (gene therapies, retinal implants, …) were based on general communication on ERN’s as well as by the ERN-EYE website, no specific action was elaborated as the code of conduct for ERN’s is still under elaboration.

Achieved outcomes compared to the expected outcomes

LAUNCH of ERN-EYE with first general annual meeting, first governance board and commitment of members by elaboration of annual road maps for guidance of our members.
FULL ACCESS for ERN-EYE members: to the ERN-EYE WEBSITE with specific access to meeting reports, minutes, library, …
VISIBILITY of ERN-EYE to our all our members, stakeholders, patients and general public by the website (to date 33000 visits) .
ONTOLOGY REVISION : launched by the ODILE meeting the work enabled us to revisit more than half of the 900 entities and curate the classification (ORPHANET and terminologies (HPO A collaborative publication is currently being submitted.
CPMS IMPLEMENTATION : HCPs are equipped to use the CPMS and aware of details for use,. Documents are available on our extranet website. The tests are not yet finalized, but ongoing.
ON GOING MATTERS: Some specific areas are still under work. 1) Guidelines inventory is done and priorities are identified within each WG. Today no unique guideline frame is available at the European level. ERN-EYE hopes to collaborate with other ERN’s and the EC to elaborate a frame that could be used by all. 2) The creation of a basic ERN-EYE registry is quite well defined but ensuring financial resources and sustainability is pending as well as the legal acceptability for all ERN-EYE MS. The ERN-EYE PMT and TWG7 are working on this. 3) List of relevant research activities is available but not yet online (short delay).

Dissemination and evaluation activities carried out so far and their major results

In 2017 and early 2018, communication on ERN-EYE activities as well as dissemination has been driven by the PMT by oral presentation, missions in various meetings, a bi-monthly newsletter, press releases, social networks pages and dedicated website.
The evaluation was prepared according to the ERN-EYE annual work program planned last year and the activity recording system established by the PMT . All these indicators were declared in the proposal submitted to CHAFEA for the SGA year 1.