Kodra, Y. et al. (2018) Recommendations for improving the quality of rare disease registries. International Journal of Environmental Research and Public Health, 15(8), 1644. (doi: 10.3390/ijerph15081644) (PMID:30081484) (PMCID:PMC6121483)
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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.
| Item Type: | Articles |
|---|---|
| Additional Information: | 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”. |
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Ahmed, Professor Syed Faisal |
| Creator Roles: | |
| Authors: | Kodra, Y., Weinbach, J., Posada-de-la-Paz, M., Coi, A., Lemonnier, S. L., van Enckevort, D., Roos, M., Jacobsen, A., Cornet, R., Ahmed, S. F., Bros-Facer, V., Popa, V., Van Meel, M., Renault, D., von Gizycki, R., Santoro, M., Landais, P., Torreri, P., Carta, C., Mascalzoni, D., Gainotti, S., Lopez, E., Ambrosini, A., Müller, H., Reis, R., Bianchi, F., Rubinstein, Y. R., Lochmüller, H., and Taruscio, D. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing |
| Journal Name: | International Journal of Environmental Research and Public Health |
| Publisher: | MDPI |
| ISSN: | 1661-7827 |
| ISSN (Online): | 1660-4601 |
| Published Online: | 03 August 2018 |
| Copyright Holders: | Copyright © 2018 The Authors |
| First Published: | First published in International Journal of Environmental Research and Public Health 15(8):1644 |
| Publisher Policy: | Reproduced under a Creative Commons License |
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