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The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes

Author

Listed:
  • Salma R. Ali

    (Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow G51 4TF, UK
    Office for Rare Conditions, University of Glasgow, Glasgow G51 4TF, UK)

  • Jillian Bryce

    (Office for Rare Conditions, University of Glasgow, Glasgow G51 4TF, UK)

  • Li En Tan

    (Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow G51 4TF, UK)

  • Olaf Hiort

    (Department of Paediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Lübeck, 23562 Lübeck, Germany)

  • Alberto M. Pereira

    (Department of Medicine, Division of Endocrinology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands)

  • Erica L. T. van den Akker

    (Department of Pediatrics, Division of Pediatric Endocrinology, Erasmus MC-Sophia Children’s Hospital, 3000 CB Rotterdam, The Netherlands
    Obesity Center CGG, Erasmus MC-Sophia Children’s Hospital, 3000 CB Rotterdam, The Netherlands)

  • Natasha M. Appelman-Dijkstra

    (Department of Medicine, Division of Endocrinology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands)

  • Jerome Bertherat

    (Reference Center for Rare Adrenal Disorders, Cochin Hospital, Université de Paris, 75006 Paris, France)

  • Martine Cools

    (Department of Internal Medicine and Paediatrics, Ghent University, 9000 Ghent, Belgium
    Department of Paediatric Endocrinology, Ghent University Hospital, 9000 Ghent, Belgium)

  • Olaf M. Dekkers

    (Department of Medicine, Division of Endocrinology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
    Departments of Medicine & Clinical Epidemiology, Leiden University Medical Centre, 2300 RC Leiden, The Netherlands)

  • Yllka Kodra

    (National Centre for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy)

  • Luca Persani

    (Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano, 20145 Milan, Italy
    Department of Biotechnology and Translational Medicine, University of Milan, 20133 Milan, Italy)

  • Arelene Smyth

    (Office for Rare Conditions, University of Glasgow, Glasgow G51 4TF, UK)

  • Christopher Smythe

    (Office for Rare Conditions, University of Glasgow, Glasgow G51 4TF, UK)

  • Domenica Taruscio

    (National Centre for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy)

  • S. Faisal Ahmed

    (Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow G51 4TF, UK
    Office for Rare Conditions, University of Glasgow, Glasgow G51 4TF, UK
    Department of Medicine, Division of Endocrinology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands)

Abstract

Rare disease (RD) registries are important platforms that facilitate communication between health care professionals, patients and other members of the multidisciplinary team. RD registries enable data sharing and promotion of research and audits, often in an international setting, with the overall aim of improving patient care. RD registries also have a fundamental role in supporting the work of clinical networks such as the European Reference Networks (ERNs) for rare diseases. With the recent expansion of RD registries, it has become even more essential to outline standards of good practice in relation to governance, infrastructure, documentation, training, audits and adopting the Findable, Accessible, Interoperable and Reusable (FAIR) data principles to maintain registries of high quality. For the purpose of this paper, we highlight vital aspects of data access and data governance policies for RD registries, using the European Registries for Rare Endocrine Conditions (EuRRECa) as an example of a project that aims to promote good standards of practice for improving the quality of utilization of RD registries.

Suggested Citation

  • 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.
    • Handle: RePEc:gam:jijerp:v:17:y:2020:i:23:p:8743-:d:450586
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    References listed on IDEAS

    as
    1. 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.
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    Cited by:

    1. 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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