Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/8902
Recommendations for Improving the Quality of Rare Disease Registries
Kodra, Yllka | Weinbach, Jérôme | Posada de la Paz, Manuel ISCIII | Coi, Alessio | Lemonnier, S Lydie | van Enckevort, David | Roos, Marco | Jacobsen, Annika | Cornet, Ronald | Ahmed, S Faisal | Bros-Facer, Virginie | Popa, Veronica | Van Meel, Marieke | Renault, Daniel | von Gizycki, Rainald | Santoro, Michele | Landais, Paul | Torreri, Paola | Carta, Claudio | Mascalzoni, Deborah | Gainotti, Sabina | Lopez-Martin, Estrella ISCIII | Ambrosini, Anna | Müller, Heimo | Reis, Robert | Bianchi, Fabrizio | Rubinstein, Yaffa | Lochmüller, Hanns | Taruscio, Domenica
Int J Environ Res Public Health. 2018 Aug 3;15(8). pii: E1644.
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.
Biomedical Research | Computational Biology | Data Accuracy | Europe | Humans | Information Storage and Retrieval | Registries | Quality Improvement | Rare Diseases
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