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

Ali, Salma R.; Bryce, Jillian; Tan, Li En; Hiort, Olaf; Pereira, Alberto M.; van den Akker, Erica L. T.; Appelman-Dijkstra, Natasha M.; Bertherat, Jerome; Cools, Martine; Dekkers, Olaf M.; Kodra, Yllka; Persani, Luca; Smyth, Arelene; Smythe, Christopher; Taruscio, Domenica; Ahmed, S. Faisal

doi:10.3390/ijerph17238743

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

^1,2,

²,

¹,

³,

⁴,

Erica L. T. van den Akker

^5,6,

Natasha M. Appelman-Dijkstra

⁴,

⁷,

^8,9

^4,10,

¹¹

^12,13

²,

²,

¹¹

and

S. Faisal Ahmed

^1,2,4,*

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

⁴

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

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

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Obesity Center CGG, Erasmus MC-Sophia Children’s Hospital, 3000 CB Rotterdam, The Netherlands

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

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Department of Internal Medicine and Paediatrics, Ghent University, 9000 Ghent, Belgium

⁹

Department of Paediatric Endocrinology, Ghent University Hospital, 9000 Ghent, Belgium

¹⁰

Departments of Medicine & Clinical Epidemiology, Leiden University Medical Centre, 2300 RC Leiden, The Netherlands

¹¹

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

¹²

Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano, 20145 Milan, Italy

¹³

Department of Biotechnology and Translational Medicine, University of Milan, 20133 Milan, Italy

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Int. J. Environ. Res. Public Health 2020, 17(23), 8743; https://doi.org/10.3390/ijerph17238743

Received: 10 September 2020 / Revised: 20 November 2020 / Accepted: 23 November 2020 / Published: 25 November 2020

(This article belongs to the Special Issue Rare Diseases Epidemiology Research: The State-of-the-Art and Future Perspectives)

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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. View Full-Text

Keywords: registries; databases; European reference networks; endocrinology; rare diseases; rare conditions

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MDPI and ACS Style

Ali, S.R.; Bryce, J.; Tan, L.E.; Hiort, O.; Pereira, A.M.; van den Akker, E.L.T.; Appelman-Dijkstra, N.M.; Bertherat, J.; Cools, M.; Dekkers, O.M.; Kodra, Y.; Persani, L.; Smyth, A.; Smythe, C.; Taruscio, D.; Ahmed, S.F. The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes. Int. J. Environ. Res. Public Health 2020, 17, 8743. https://doi.org/10.3390/ijerph17238743

AMA Style

Ali SR, Bryce J, Tan LE, Hiort O, Pereira AM, van den Akker ELT, Appelman-Dijkstra NM, Bertherat J, Cools M, Dekkers OM, Kodra Y, Persani L, Smyth A, Smythe C, Taruscio D, Ahmed SF. The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes. International Journal of Environmental Research and Public Health. 2020; 17(23):8743. https://doi.org/10.3390/ijerph17238743

Chicago/Turabian Style

Ali, Salma R., Jillian Bryce, Li E. 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, Luca Persani, Arelene Smyth, Christopher Smythe, Domenica Taruscio, and S. F. Ahmed. 2020. "The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes" International Journal of Environmental Research and Public Health 17, no. 23: 8743. https://doi.org/10.3390/ijerph17238743

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