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Recommendations for Improving the Quality of Rare Disease Registries.
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, Estrella; Ambrosini, Anna; Müller, Heimo; Reis, Robert; Bianchi, Fabrizio; Rubinstein, Yaffa R; Lochmüller, Hanns; Taruscio, Domenica.
Afiliación
  • Kodra Y; National Centre for Rare Diseases, Istituto Superiore di Sanità, 00162 Rome, Italy. yllka.kodra@iss.it.
  • Weinbach J; RaDiCo, (The French National Programme on Rare Disease Cohorts), Inserm-UMR S933, National Institute of Health and Medical Research, Hôpital Trousseau, 75018 Paris, France. jerome.weinbach@radico.fr.
  • Posada-de-la-Paz M; Institute of Rare Diseases Research, ISCIII, RDR and CIBERER, 28029 Madrid, Spain. mposada@isciii.es.
  • Coi A; Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy. alessio.coi@ifc.cnr.it.
  • Lemonnier SL; Fondazione Toscana "Gabriele Monasterio" (FTGM), 56124 Pisa, Italy. alessio.coi@ifc.cnr.it.
  • van Enckevort D; Patient Advisory Council of RD Connect and Vaincre la Mucoviscidose the French Cystic Fibrosis Patient Organization, 75013 Paris, France. llemonnier@vaincrelamuco.org.
  • Roos M; Department of Genetics, University Medical Centre Groningen (UMCG), University of Groningen, 9700 RB Groningen, The Netherlands. d.van.enckevort@rug.nl.
  • Jacobsen A; Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. m.roos@lumc.nl.
  • Cornet R; Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. annika.jacobsen.86@gmail.com.
  • Ahmed SF; Amsterdam UMC, University of Amsterdam, Medical Informatics, Amsterdam Public Health Research Institute, 1105 AZ Amsterdam, The Netherlands. r.cornet@amc.uva.nl.
  • Bros-Facer V; Office for Rare Conditions, Royal Hospital for Children, University of Glasgow, Glasgow G51 4TF, UK. faisal.ahmed@glasgow.ac.uk.
  • Popa V; Patient Advisory Council of RD-Connect and EURORDIS-Rare Diseases Europe, 75014 Paris, France. virginie.bros-facer@eurordis.org.
  • Van Meel M; Patient Advisory Council of RD Connect and MCT8-AHDS Foundation, Oklahoma, OK 74464, USA. veronica_maria_popa@yahoo.com.
  • Renault D; Patient Advisory Council of RD Connect and NephcEurope Foundation, 2411 DW Bodegraven, The Netherlands. mvanmeel@casema.nl.
  • von Gizycki R; Patient Advisory Council of RD Connect and FEDERG, 1200 Brussels, Belgium. daniel.renault34@orange.fr.
  • Santoro M; Patient Advisory Council of RD Connect and PRO RETINA Deutschland, 53113 Bonn, Germany. rainald.vongizycki@charite.de.
  • Landais P; Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy. msantoro@ifc.cnr.it.
  • Torreri P; Fondazione Toscana "Gabriele Monasterio" (FTGM), 56124 Pisa, Italy. msantoro@ifc.cnr.it.
  • Carta C; RaDiCo, (The French National Programme on Rare Disease Cohorts), Inserm-UMR S933, National Institute of Health and Medical Research, Hôpital Trousseau, 75018 Paris, France. paul.landais@umontpellier.fr.
  • Mascalzoni D; EA2415 Clinical Research Institute, Montpellier University, 34093 Montpellier, France. paul.landais@umontpellier.fr.
  • Gainotti S; National Centre for Rare Diseases, Istituto Superiore di Sanità, 00162 Rome, Italy. paola.torreri@iss.it.
  • Lopez E; National Centre for Rare Diseases, Istituto Superiore di Sanità, 00162 Rome, Italy. claudio.carta@iss.it.
  • Ambrosini A; Department of Public Health and Caring Sciences, Centre for Research Ethics & Bioethics (CRB) Uppsala University, 75122 Uppsala, Sweden. deborah.mascalzoni@crb.uu.se.
  • Müller H; Bioethics Unit, Office of the President, Istituto Superiore di Sanità, 00162 Rome, Italy. sabina.gainotti@iss.it.
  • Reis R; Institute of Rare Diseases Research, ISCIII, RDR and CIBERER, 28029 Madrid, Spain. elopez@isciii.es.
  • Bianchi F; Fondazione Telethon, 20129 Milan, Italy. aambrosini@telethon.it.
  • Rubinstein YR; Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria. heimo.mueller@medunigraz.at.
  • Lochmüller H; Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria. robert.reihs@medunigraz.at.
  • Taruscio D; Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy. fabrizio.bianchi@ifc.cnr.it.
Int J Environ Res Public Health ; 15(8)2018 08 03.
Article en En | MEDLINE | ID: mdl-30081484
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sistema de Registros / Enfermedades Raras / Mejoramiento de la Calidad Tipo de estudio: Guideline Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Int J Environ Res Public Health Año: 2018 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sistema de Registros / Enfermedades Raras / Mejoramiento de la Calidad Tipo de estudio: Guideline Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Int J Environ Res Public Health Año: 2018 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza