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dc.contributor.authorKodra, Yllka
dc.contributor.authorWeinbach, Jérôme
dc.contributor.authorPosada de la Paz, Manuel 
dc.contributor.authorCoi, Alessio
dc.contributor.authorLemonnier, S Lydie
dc.contributor.authorvan Enckevort, David
dc.contributor.authorRoos, Marco
dc.contributor.authorJacobsen, Annika
dc.contributor.authorCornet, Ronald
dc.contributor.authorAhmed, S Faisal
dc.contributor.authorBros-Facer, Virginie
dc.contributor.authorPopa, Veronica
dc.contributor.authorVan Meel, Marieke
dc.contributor.authorRenault, Daniel
dc.contributor.authorvon Gizycki, Rainald
dc.contributor.authorSantoro, Michele
dc.contributor.authorLandais, Paul
dc.contributor.authorTorreri, Paola
dc.contributor.authorCarta, Claudio
dc.contributor.authorMascalzoni, Deborah
dc.contributor.authorGainotti, Sabina
dc.contributor.authorLopez-Martin, Estrella 
dc.contributor.authorAmbrosini, Anna
dc.contributor.authorMüller, Heimo
dc.contributor.authorReis, Robert
dc.contributor.authorBianchi, Fabrizio
dc.contributor.authorRubinstein, Yaffa
dc.contributor.authorLochmüller, Hanns
dc.contributor.authorTaruscio, Domenica
dc.identifier.citationInt J Environ Res Public Health. 2018 Aug 3;15(8). pii: E1644.es_ES
dc.description.abstractRare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality.es_ES
dc.description.sponsorshipSupported by the RD-CONNECT: an integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research, which received funding from the European Union within the framework of FP7 Collaborative projectHEALTH.2012.2.1.1-1-C [Grant agreement number: 305444]. Supported partly also by EuRRECa: European Registries for Rare Endocrine Conditions, which received funding from the European Union within the framework of CHAFEA Health Programme (2014–2020) [Grant agreement number: 777215] and the COST Action CA16210 “Maximising Impact of research in NeuroDevelopmental Disorders”.es_ES
dc.relation.isversionofPublisher's versiones_ES
dc.subjectpatient registryes_ES
dc.subjectrare diseaseses_ES
dc.subject.meshBiomedical Research es_ES
dc.subject.meshComputational Biology es_ES
dc.subject.meshData Accuracy es_ES
dc.subject.meshEurope es_ES
dc.subject.meshHumans es_ES
dc.subject.meshInformation Storage and Retrieval es_ES
dc.subject.meshRegistries es_ES
dc.subject.meshQuality Improvement es_ES
dc.subject.meshRare Diseases es_ES
dc.titleRecommendations for Improving the Quality of Rare Disease Registrieses_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.contributor.funderEuropean Uniones_ES
dc.identifier.journalInternational journal of environmental research and public healthes_ES
dc.repisalud.centroISCIII::Instituto de Investigación de Enfermedades Rarases_ES
dc.relation.projectIDFP7 Collaborative projectHEALTH.2012.2.1.1-1-C [Grant agreement number: 305444]es_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/(2014–2020) [Grant agreement number: 777215]es_ES

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Atribución 4.0 Internacional
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