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

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, Luca Persani, Arelene Smyth, Christopher Smythe, Domenica Taruscio and S. Faisal Ahmed
Additional contact information
Salma R. Ali: Developmental Endocrinology Research Group, Royal Hospital for Children, 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
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
Olaf M. Dekkers: Department of Medicine, Division of Endocrinology, Leiden University Medical Center, 2333 ZA 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
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

IJERPH, 2020, vol. 17, issue 23, 1-12

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.

Keywords: registries; databases; European reference networks; endocrinology; rare diseases; rare conditions (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2020
References: View references in EconPapers View complete reference list from CitEc
Citations: View citations in EconPapers (1)

Downloads: (external link)
https://www.mdpi.com/1660-4601/17/23/8743/pdf (application/pdf)
https://www.mdpi.com/1660-4601/17/23/8743/ (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:gam:jijerp:v:17:y:2020:i:23:p:8743-:d:450586

Access Statistics for this article

IJERPH is currently edited by Ms. Jenna Liu

More articles in IJERPH from MDPI
Bibliographic data for series maintained by MDPI Indexing Manager ().