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Recommendations for Improving the Quality of Rare Disease Registries

Author

Listed:
  • 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
    Fondazione Toscana “Gabriele Monasterio” (FTGM), 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
    Fondazione Toscana “Gabriele Monasterio” (FTGM), 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
    EA2415 Clinical Research Institute, Montpellier University, 34093 Montpellier, 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
    Fondazione Toscana “Gabriele Monasterio” (FTGM), 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
    CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain)

  • Domenica Taruscio

    (National Centre for Rare Diseases, Istituto Superiore di Sanità, 00162 Rome, Italy)

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.

Suggested Citation

  • 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 , 2018. "Recommendations for Improving the Quality of Rare Disease Registries," IJERPH, MDPI, vol. 15(8), pages 1-22, August.
    • Handle: RePEc:gam:jijerp:v:15:y:2018:i:8:p:1644-:d:161759
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    Citations

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    Cited by:

    1. Salma R. Ali & Jillian Bryce & Li En Tan & Olaf Hiort & Alberto M. Pereira & Erica L. T. van den Akker & Natasha M. Appelman-Dijkstra & Jerome Bertherat & Martine Cools & Olaf M. Dekkers & Yllka Kodra, 2020. "The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes," IJERPH, MDPI, vol. 17(23), pages 1-12, November.
    2. Takeya Adachi & Ayman W. El-Hattab & Ritu Jain & Katya A. Nogales Crespo & Camila I. Quirland Lazo & Maurizio Scarpa & Marshall Summar & Duangrurdee Wattanasirichaigoon, 2023. "Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges," IJERPH, MDPI, vol. 20(6), pages 1-37, March.
    3. Dalibor Stanimirovic & Eva Murko & Tadej Battelino & Urh Groselj & Mojca Zerjav Tansek, 2021. "Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach," IJERPH, MDPI, vol. 18(23), pages 1-17, November.
    4. Salma Rashid Ali & Jillian Bryce & Yllka Kodra & Domenica Taruscio & Luca Persani & Syed Faisal Ahmed, 2021. "The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease Registry," IJERPH, MDPI, vol. 18(22), pages 1-9, November.

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