Recommendations for Improving the Quality of Rare Disease Registries

Yllka Kodra, Jérôme Weinbach, Manuel Posada- de-la-Paz, Alessio Coi, S. Lydie Lemonnier, David Van Enckevort, Marco Roos, Annika Jacobsen, Ronald Cornet, S. Faisal 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
Additional contact information
Yllka Kodra: National Centre for Rare Diseases, Istituto Superiore di Sanità, 00162 Rome, Italy
Jérôme Weinbach: RaDiCo, (The French National Programme on Rare Disease Cohorts), Inserm-UMR S933, National Institute of Health and Medical Research, Hôpital Trousseau, 75018 Paris, France
Manuel Posada- de-la-Paz: Institute of Rare Diseases Research, ISCIII, RDR and CIBERER, 28029 Madrid, Spain
Alessio Coi: Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy
S. Lydie Lemonnier: Patient Advisory Council of RD Connect and Vaincre la Mucoviscidose the French Cystic Fibrosis Patient Organization, 75013 Paris, France
David Van Enckevort: Department of Genetics, University Medical Centre Groningen (UMCG), University of Groningen, 9700 RB Groningen, The Netherlands
Marco Roos: Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
Annika Jacobsen: Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
Ronald Cornet: Amsterdam UMC, University of Amsterdam, Medical Informatics, Amsterdam Public Health Research Institute, 1105 AZ Amsterdam, The Netherlands
S. Faisal Ahmed: Office for Rare Conditions, Royal Hospital for Children, University of Glasgow, Glasgow G51 4TF, UK
Virginie Bros-Facer: Patient Advisory Council of RD-Connect and EURORDIS-Rare Diseases Europe, 75014 Paris, France
Veronica Popa: Patient Advisory Council of RD Connect and MCT8-AHDS Foundation, Oklahoma, OK 74464, USA
Marieke Van Meel: Patient Advisory Council of RD Connect and NephcEurope Foundation, 2411 DW Bodegraven, The Netherlands
Daniel Renault: Patient Advisory Council of RD Connect and FEDERG, 1200 Brussels, Belgium
Rainald Von Gizycki: Patient Advisory Council of RD Connect and PRO RETINA Deutschland, 53113 Bonn, Germany
Michele Santoro: Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy
Paul Landais: RaDiCo, (The French National Programme on Rare Disease Cohorts), Inserm-UMR S933, National Institute of Health and Medical Research, Hôpital Trousseau, 75018 Paris, France
Paola Torreri: National Centre for Rare Diseases, Istituto Superiore di Sanità, 00162 Rome, Italy
Claudio Carta: National Centre for Rare Diseases, Istituto Superiore di Sanità, 00162 Rome, Italy
Deborah Mascalzoni: Department of Public Health and Caring Sciences, Centre for Research Ethics & Bioethics (CRB) Uppsala University, 75122 Uppsala, Sweden
Sabina Gainotti: Bioethics Unit, Office of the President, Istituto Superiore di Sanità, 00162 Rome, Italy
Estrella Lopez: Institute of Rare Diseases Research, ISCIII, RDR and CIBERER, 28029 Madrid, Spain
Anna Ambrosini: Fondazione Telethon, 20129 Milan, Italy
Heimo Müller: Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria
Robert Reis: Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria
Fabrizio Bianchi: Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy
Yaffa R. Rubinstein: National Library of Medicine/National Institutes of Health, Bethesda, MD 20892-2128, USA
Hanns Lochmüller: Department of Neuropediatrics and Muscle Disorders Medical Center, University of Freiburg Faculty of Medicine, 79160 Freiburg, Germany
Domenica Taruscio: National Centre for Rare Diseases, Istituto Superiore di Sanità, 00162 Rome, Italy

IJERPH, 2018, vol. 15, issue 8, 1-22

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.

Keywords: rare diseases; patient registry; quality (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2018
References: View complete reference list from CitEc
Citations: View citations in EconPapers (5)

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