The overall structure of ENROL has been defined in the core of ERN-EuroBloodNet. As the central registry for ERN-EuroBloodNet, ENROL will cover up to 450 RHDs, with estimated prevalence ranging from 0.049% to 10-7%. In addition, for some disorders, such as myelodysplastic syndromes, there are well-established European networks and national registries, whereas there is a complete lack of registries for other ultra-rare disorders, such as rare iron metabolism related disorders.
ENROL will be aligned with relevant recommendations of the EU RD Platform by using the Common Data Elements (CDEs), the guidelines for metadata description, pseudonymization through the EUPID tool and established standards to maximize interoperability.
With these multiple scenarios, the setting up of a central European registry covering all RHDs must contemplate different strategies for a comprehensive approach. Accordingly, a total of 6 specific working packages (WPs) have been defined, linked to Management, Dissemination and Evaluation of the platform, led by HUVH (VHIR), together with the following three WPs tailored to specific objectives:
WP4. Connecting EU-RHD Registries and Healthcare providers for secure sharing and re-using of data - linked to ENROL specific objective 1 - To connect, upgrade and build EU patient registries on RHDs, while promoting interoperability standards in line with the EU-RD Platform. Led by HUVH (VHIR).
WP4 includes actions undertaken in order to connect EU-RHD registries and healthcare providers within a legal and ethical frame, enabling the sharing and re-use of RHD data while ensuring the implementation of appropriate safeguards for secure transmission and respecting patient rights and privacy. This WP also aims to empower patients' community on their decision taken regarding participation in registries.
WP5. Facilitating epidemiological surveillance, research and access to new treatments for RHD - linked to ENROL specific objective 2 - To enable comparable data on RHD at the EU level for epidemiological and clinical surveillance, while promoting the engagement of basic and clinical research. Led by ERASME.
WP5 includes actions undertaken in order to produce and implement the research protocol for structured collection and processing of data on RHDs, including data codification. CDEs for all RHDs will be defined expanding the released by the EU RD Platform for Rare diseases registration. Thus, contributing to the domain-specific CDEs on haematological disorders (Proposal by the EJP-RD for semantic RD registry interoperability). Collaboration will be established among all ERNs covering rare cancers, EURACAN, PaedCan and Genturis. Communication of results will be envisaged via the production of Policy Reports.
WP6. Setting-up ENROL's Platform in line with the EU-RD Platform - linked to ENROL specific objective 3 - To create an interoperable, extendible and functional web-based platform, which will enable entering and integration of certified patient data from the available sources. Led by CING.
WP6 includes actions undertaken for the development of the ENROL platform and the integration of data from existing registries, preventive programmes and HCPs. Specifically, this WP aims a) to design a relational database to organise the data defined in the clinical protocol, b) to integrate in the platform internationally established standards and ontologies for the description of diseases, phenotypes, genes, variations and clinical trials, c) to develop a web platform for storing and retrieving patient data for RHDs, with particular emphasis in data protection and security, and d) to integrate patient data from existing registries, preventive programmes and HCPs.