title: The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration.
abstract: BACKGROUND
  The European Union acknowledges the relevance of registries as key instruments for developing rare disease (RD) clinical research, improving patient care and health service (HS) planning and funded the EPIRARE project to improve standardization and data comparability among patient registries and to support new registries and data collections.
  
  
  METHODS
  A reference list of patient registry-based indicators has been prepared building on the work of previous EU projects and on the platform stakeholders' information needs resulting from the EPIRARE surveys and consultations. The variables necessary to compute these indicators have been analysed for their scope and use and then organized in data domains.
  
  
  RESULTS
  The reference indicators span from disease surveillance, to socio-economic burden, HS monitoring, research and product development, policy equity and effectiveness. The variables necessary to compute these reference indicators have been selected and, with the exception of more sophisticated indicators for research and clinical care quality, they can be collected as data elements common (CDE) to all rare diseases. They have been organized in data domains characterized by their contents and main goal and a limited set of mandatory data elements has been defined, which allows case notification independently of the physician or the health service.
  
  
  CONCLUSIONS
  The definition of a set of CDE for the European platform for RD patient registration is the first step in the promotion of the use of common tools for the collection of comparable data. The proposed organization of the CDE contributes to the completeness of case ascertainment, with the possible involvement of patients and patient associations in the registration process.
authors.affiliation: National Centre for Rare Diseases, National Institute of Health, Rome, Italy.
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.affiliation: National Centre for Rare Diseases, National Institute of Health, Rome, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Mollo
authors.affiliation: National Centre for Rare Diseases, National Institute of Health, Rome, Italy.
authors.forename: Sabina
authors.initials: S
authors.lastname: Gainotti
authors.affiliation: Institute of Rare Diseases Research (Instituto de Investigación de Enfermedades Raras - IIER), Instituto de Salud Carlos III (Instituto de Salud Carlos III - ISCIII), Madrid, Spain ; RDR and Consortium for Biomedical Research in Rare Diseases (Centro de Investigación Biomédica en Red de Enfermedades Raras -CIBERER), Madrid, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Posada de la Paz
authors.affiliation: Institute of Clinical Physiology, National Council of Research, Pisa, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Bianchi
authors.affiliation: National Centre for Rare Diseases, National Institute of Health, Rome, Italy.
authors.forename: Luciano
authors.initials: L
authors.lastname: Vittozzi
keywords: Common data elements; EPIRARE; European platform; Patient registration; Rare diseases; Registries