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...

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Detalles Bibliográficos
Autores: Kodra, Yllka, Lochmüller, Hanns, Taruscio, Domenica
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/42908
Acceso en línea:http://hdl.handle.net/10230/42908
http://dx.doi.org/10.3390/ijerph15081644
Access Level:acceso abierto
Palabra clave:Patient registry
Quality
Rare diseases
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spelling Recommendations for improving the quality of rare disease registriesKodra, YllkaLochmüller, HannsTaruscio, DomenicaPatient registryQualityRare diseasesRare 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.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”.MDPI201920192018info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/42908http://dx.doi.org/10.3390/ijerph15081644reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésInt J Environ Res Public Health. 2018; 15(8). pii: E1644info:eu-repo/grantAgreement/EC/FP7/305444© 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/).http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/429082026-06-12T07:21:37Z
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
Patient registry
Quality
Rare diseases
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
Lochmüller, Hanns
Taruscio, Domenica
author Kodra, Yllka
author_facet Kodra, Yllka
Lochmüller, Hanns
Taruscio, Domenica
author_role author
author2 Lochmüller, Hanns
Taruscio, Domenica
author2_role author
author
dc.subject.none.fl_str_mv Patient registry
Quality
Rare diseases
topic Patient registry
Quality
Rare diseases
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
2019
2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/42908
http://dx.doi.org/10.3390/ijerph15081644
url http://hdl.handle.net/10230/42908
http://dx.doi.org/10.3390/ijerph15081644
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Int J Environ Res Public Health. 2018; 15(8). pii: E1644
info:eu-repo/grantAgreement/EC/FP7/305444
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
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repository.mail.fl_str_mv
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