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The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease Registry

Author

Listed:
  • Salma Rashid 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)

  • Yllka Kodra

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

  • Domenica Taruscio

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

  • Luca Persani

    (Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano, 20100 Milan, Italy
    Department of Biotechnology and Translational Medicine, University of Milan, 20133 Milan, Italy)

  • Syed 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, 2333ZA Leiden, The Netherlands)

Abstract

Rare disease (RD) registries aim to promote data collection and sharing, and facilitate multidisciplinary collaboration with the overall aim of improving patient care. Recommendations relating to the minimum standards necessary to develop and maintain high quality registries are essential to ensure high quality data and sustainability of registries. The aim of this international study was to survey RD registry leaders to ascertain the level of consensus amongst the RD community regarding the quality criteria that should be considered essential features of a disease registry. Of 35 respondents representing 40 RD registries, over 95% indicated that essential quality criteria should include establishment of a good governance system (ethics approval, registry management team, standard operating protocol and long-term sustainability plan), data quality (personnel responsible for data entry and procedures for checking data quality) and construction of an IT infrastructure complying with Findable, Accessible, Interoperable and Reusable (FAIR) principles to maintain registries of high quality, with procedures for authorized user access, erasing personal data, data breach procedures and a web interface. Of the 22 registries that performed a self-assessment, over 80% stated that their registry had a leader, project management group, steering committee, active funding stream, website, and user access policies. This survey has acceptability amongst the RD community for the self-quality evaluation of RD registries with high levels of consensus for the proposed quality criteria.

Suggested Citation

  • 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.
    • Handle: RePEc:gam:jijerp:v:18:y:2021:i:22:p:11968-:d:679117
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    References listed on IDEAS

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    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. Carla J. Jonker & Sieta T. Vries & H. Marijke Berg & Patricia McGettigan & Arno W. Hoes & Peter G. M. Mol, 2021. "Capturing Data in Rare Disease Registries to Support Regulatory Decision Making: A Survey Study Among Industry and Other Stakeholders," Drug Safety, Springer, vol. 44(8), pages 853-861, August.
    3. 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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