Recommendations for improving the quality of rare disease registries

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• dc.contributor.author Kodra, Yllka
• dc.contributor.author Lochmüller, Hanns
• dc.contributor.author Taruscio, Domenica
• dc.date.accessioned 2019-11-20T08:48:46Z
• dc.date.available 2019-11-20T08:48:46Z
• dc.date.issued 2018
• dc.description.abstract Rare 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.
• dc.description.sponsorship Supported 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”.
• dc.format.mimetype application/pdf
• dc.identifier.citation Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D et al. Recommendations for improving the quality of rare disease registries. Int J Environ Res Public Health. 2018; 15(8). pii: E1644. DOI 10.3390/ijerph15081644
• dc.identifier.doi http://dx.doi.org/10.3390/ijerph15081644
• dc.identifier.issn 1660-4601
• dc.identifier.uri http://hdl.handle.net/10230/42908
• dc.language.iso eng
• dc.publisher MDPI
• dc.relation.ispartof Int J Environ Res Public Health. 2018; 15(8). pii: E1644
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305444
• dc.rights © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Patient registry
• dc.subject.keyword Quality
• dc.subject.keyword Rare diseases
• dc.title Recommendations for improving the quality of rare disease registries
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion