PB2285 RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM
Authors: V. Gutierrez Valle, M. D. M. Mañú Pereira, M. Kleanthous, P. Kountouris, S. Tamana, R. Colombatti, P. Bianchi, E. van Beers, B. Gulbis
Journal: HemaSphere (2019)

Background: Rare anaemia (RA) includes a highly heterogeneous group of rare and ultra‐rare haematological conditions. The numbers of RA patients included in clinical research are rarely adequate in one centre or even in one country, thus requiring a European approach. However, the lack of uniform standards for data collection has led to the implementation of a large number of patients’ registries through different approaches, gathering non‐comparable and fragmented data, which hamper collaborative projects and generation of enough robust evidence for translation of results into clinical practice. Aims: To promote basic and clinical research on RA at the EU level by the setting up of a European epidemiological platform for the secure exchange and integration of RA data with the only restriction needed to guarantee patient's rights and confidentially in agreement with EU General Data Protection Regulation (GDPR). Methods: The Rare Anaemia Disorders European Epidemiological Platform (RADeep) is an initiative of the European Reference Network on Rare Hematological Diseases (ERN‐EuroBloodNet), as an umbrella for both new and existing European patients’ registries in RA. RADeep is built in line with the European Commission platform for rare disorders supported by the EC‐Joint Research Centre (EC‐JRC) and with the principles of FAIR data (Findable, Accessible, Interoperable, Reusable). Its primary objective is to assess at the EU level the prevalence, incidence and survival of RA patients stratified by demographics and severity. Secondary objectives include the assessment of RA subgroups a)main clinical manifestations and b)treatments. Results: RADeep legal frame has been established in line with GDPR and EC‐JRC recommendations for secure sharing and re‐use of FAIR data enabling both entering medical data from available sources and re‐use of data with third parties. RADeep solution is implemented ensuring interoperability with existing platforms based on the FAIRification of data to be gathered by the use of international ontologies for diagnosis and phenotype (eg. ORPHA, HPO, ICD) and the implementation of EUPID as the pseudonymization tool provided by the EC‐JRC. EUPID generates a unique global identifier for rare diseases patients avoiding multiple entries while allowing the merge of different European structures databases as biobanks or –OMICs platforms. The common data set (CDS) for RA has been defined including 29 mandatory parameters linked to the primary objective, and 69 optional linked to secondary objectives. Parameters are categorized into subgroups for the gathering of demographic and epidemiological information (eg. diagnosis, country of living), main clinical manifestations (eg. iron overload, organ damage) and treatments (eg. blood transfusion, splenectomy, drugs, clinical trials). RADeep is implemented based on a disease specific multi‐arms structure. While the common frame for RADeep functioning is almost finalized, parallel actions are undertaken for the establishment of disease‐specific committees in charge of defining the arm specific objectives and the expansion of the CDS accordingly. First phase of RADeep implementation will be launched shortly for Pyruvate Kinase Deficiency. Summary/Conclusion: RADeep offers a GDPR‐compliance platform as the European approach for the standardised collection of data regarding the main clinical features of RA, which is fundamental for the establishment of the need and the priorities in the development of research projects, clinical trials, guidelines and health policies that allow the better provision of healthcare to RA patients across EU.