Recommendations for Improving the Quality of Rare Disease Registries
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 Refer...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2018 |
| País: | España |
| Institución: | Instituto de Salud Carlos III (ISCIII) |
| Repositorio: | Repisalud |
| Idioma: | inglés |
| OAI Identifier: | oai:repisalud.isciii.es:20.500.12105/8902 |
| Acceso en línea: | http://hdl.handle.net/20.500.12105/8902 |
| Access Level: | acceso abierto |
| Palabra clave: | Biomedical Research Computational Biology Data Accuracy Europe Humans |
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Recommendations for Improving the Quality of Rare Disease RegistriesKodra, YllkaWeinbach, JérômePosada De la Paz, ManuelCoi, AlessioLemonnier, S Lydievan Enckevort, DavidRoos, MarcoJacobsen, AnnikaCornet, RonaldAhmed, S FaisalBros-Facer, VirginiePopa, VeronicaVan Meel, MariekeRenault, Danielvon Gizycki, RainaldSantoro, MicheleLandais, PaulTorreri, PaolaCarta, ClaudioMascalzoni, DeborahGainotti, SabinaLopez-Martin, EstrellaAmbrosini, AnnaMüller, HeimoReis, RobertBianchi, FabrizioRubinstein, YaffaLochmüller, HannsTaruscio, DomenicaBiomedical ResearchComputational BiologyData AccuracyEuropeHumansRare 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.Multidisciplinary Digital Publishing Institute (MDPI)Unión Europea. Comisión Europea. 7 Programa MarcoConsumers, Health, Agriculture and Food Executive AgencyUnión Europea. European Cooperation in Science and Technology (COST)20202020-01-1520182018-01-0120182018-01-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/20.500.12105/8902reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)InglésengEC 305444 Not availableEC 777215 Not availableopen accesshttp://purl.org/coar/access_right/c_abf2Atribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/89022026-06-12T12:43:37Z |
| dc.title.none.fl_str_mv |
Recommendations for Improving the Quality of Rare Disease Registries |
| title |
Recommendations for Improving the Quality of Rare Disease Registries |
| spellingShingle |
Recommendations for Improving the Quality of Rare Disease Registries Kodra, Yllka Biomedical Research Computational Biology Data Accuracy Europe Humans |
| title_short |
Recommendations for Improving the Quality of Rare Disease Registries |
| title_full |
Recommendations for Improving the Quality of Rare Disease Registries |
| title_fullStr |
Recommendations for Improving the Quality of Rare Disease Registries |
| title_full_unstemmed |
Recommendations for Improving the Quality of Rare Disease Registries |
| title_sort |
Recommendations for Improving the Quality of Rare Disease Registries |
| dc.creator.none.fl_str_mv |
Kodra, Yllka Weinbach, Jérôme Posada De la Paz, Manuel 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 Ambrosini, Anna Müller, Heimo Reis, Robert Bianchi, Fabrizio Rubinstein, Yaffa Lochmüller, Hanns Taruscio, Domenica |
| author |
Kodra, Yllka |
| author_facet |
Kodra, Yllka Weinbach, Jérôme Posada De la Paz, Manuel 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 Ambrosini, Anna Müller, Heimo Reis, Robert Bianchi, Fabrizio Rubinstein, Yaffa Lochmüller, Hanns Taruscio, Domenica |
| author_role |
author |
| author2 |
Weinbach, Jérôme Posada De la Paz, Manuel 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 Ambrosini, Anna Müller, Heimo Reis, Robert Bianchi, Fabrizio Rubinstein, Yaffa Lochmüller, Hanns Taruscio, Domenica |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Unión Europea. Comisión Europea. 7 Programa Marco Consumers, Health, Agriculture and Food Executive Agency Unión Europea. European Cooperation in Science and Technology (COST) |
| dc.subject.none.fl_str_mv |
Biomedical Research Computational Biology Data Accuracy Europe Humans |
| topic |
Biomedical Research Computational Biology Data Accuracy Europe Humans |
| description |
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. |
| publishDate |
2018 |
| dc.date.none.fl_str_mv |
2018 2018-01-01 2018 2018-01-01 2020 2020-01-15 |
| dc.type.none.fl_str_mv |
research article http://purl.org/coar/resource_type/c_2df8fbb1 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
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article |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/20.500.12105/8902 |
| url |
http://hdl.handle.net/20.500.12105/8902 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.relation.none.fl_str_mv |
EC 305444 Not available EC 777215 Not available |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 Atribución 4.0 Internacional http://creativecommons.org/licenses/by/4.0/ |
| dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 Atribución 4.0 Internacional http://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf |
| dc.publisher.none.fl_str_mv |
Multidisciplinary Digital Publishing Institute (MDPI) |
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Multidisciplinary Digital Publishing Institute (MDPI) |
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reponame:Repisalud instname:Instituto de Salud Carlos III (ISCIII) |
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Instituto de Salud Carlos III (ISCIII) |
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Repisalud |
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Repisalud |
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