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Recommendations for Improving the Quality of Rare Disease Registries

National Centre for Rare Diseases, Istituto Superiore di Sanità, 00162 Rome, Italy
RaDiCo, (The French National Programme on Rare Disease Cohorts), Inserm-UMR S933, National Institute of Health and Medical Research, Hôpital Trousseau, 75018 Paris, France
Institute of Rare Diseases Research, ISCIII, RDR and CIBERER, 28029 Madrid, Spain
Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy
Fondazione Toscana “Gabriele Monasterio” (FTGM), 56124 Pisa, Italy
Patient Advisory Council of RD Connect and Vaincre la Mucoviscidose the French Cystic Fibrosis Patient Organization, 75013 Paris, France
Department of Genetics, University Medical Centre Groningen (UMCG), University of Groningen, 9700 RB Groningen, The Netherlands
Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
Amsterdam UMC, University of Amsterdam, Medical Informatics, Amsterdam Public Health Research Institute, 1105 AZ Amsterdam, The Netherlands
Office for Rare Conditions, Royal Hospital for Children, University of Glasgow, Glasgow G51 4TF, UK
Patient Advisory Council of RD-Connect and EURORDIS-Rare Diseases Europe, 75014 Paris, France
Patient Advisory Council of RD Connect and MCT8-AHDS Foundation, Oklahoma, OK 74464, USA
Patient Advisory Council of RD Connect and NephcEurope Foundation, 2411 DW Bodegraven, The Netherlands
Patient Advisory Council of RD Connect and FEDERG, 1200 Brussels, Belgium
Patient Advisory Council of RD Connect and PRO RETINA Deutschland, 53113 Bonn, Germany
EA2415 Clinical Research Institute, Montpellier University, 34093 Montpellier, France
Department of Public Health and Caring Sciences, Centre for Research Ethics & Bioethics (CRB) Uppsala University, 75122 Uppsala, Sweden
Bioethics Unit, Office of the President, Istituto Superiore di Sanità, 00162 Rome, Italy
Fondazione Telethon, 20129 Milan, Italy
Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria
National Library of Medicine/National Institutes of Health, Bethesda, MD 20892-2128, USA
Department of Neuropediatrics and Muscle Disorders Medical Center, University of Freiburg Faculty of Medicine, 79160 Freiburg, Germany
CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain
Author to whom correspondence should be addressed.
Int. J. Environ. Res. Public Health 2018, 15(8), 1644;
Received: 28 June 2018 / Revised: 26 July 2018 / Accepted: 26 July 2018 / Published: 3 August 2018
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. View Full-Text
Keywords: rare diseases; patient registry; quality rare diseases; patient registry; quality
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MDPI and ACS Style

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.; Taruscio, D. Recommendations for Improving the Quality of Rare Disease Registries. Int. J. Environ. Res. Public Health 2018, 15, 1644.

AMA Style

Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, Van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, 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 YR, Lochmüller H, Taruscio D. Recommendations for Improving the Quality of Rare Disease Registries. International Journal of Environmental Research and Public Health. 2018; 15(8):1644.

Chicago/Turabian Style

Kodra, Yllka, Jérôme Weinbach, Manuel Posada-de-la-Paz, Alessio Coi, S. L. Lemonnier, David Van Enckevort, Marco Roos, Annika Jacobsen, Ronald Cornet, S. F. Ahmed, Virginie Bros-Facer, Veronica Popa, Marieke Van Meel, Daniel Renault, Rainald Von Gizycki, Michele Santoro, Paul Landais, Paola Torreri, Claudio Carta, Deborah Mascalzoni, Sabina Gainotti, Estrella Lopez, Anna Ambrosini, Heimo Müller, Robert Reis, Fabrizio Bianchi, Yaffa R. Rubinstein, Hanns Lochmüller, and Domenica Taruscio. 2018. "Recommendations for Improving the Quality of Rare Disease Registries" International Journal of Environmental Research and Public Health 15, no. 8: 1644.

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