Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 Aug 3;15(8):1644.
doi: 10.3390/ijerph15081644.

Recommendations for Improving the Quality of Rare Disease Registries

Yllka Kodra  1 , Jérôme Weinbach  2 , Manuel Posada-de-la-Paz  3 , Alessio Coi  4   5 , S Lydie Lemonnier  6 , David van Enckevort  7 , Marco Roos  8 , Annika Jacobsen  9 , Ronald Cornet  10 , S Faisal Ahmed  11 , Virginie Bros-Facer  12 , Veronica Popa  13 , Marieke Van Meel  14 , Daniel Renault  15 , Rainald von Gizycki  16 , Michele Santoro  17   18 , Paul Landais  19   20 , Paola Torreri  21 , Claudio Carta  22 , Deborah Mascalzoni  23 , Sabina Gainotti  24 , Estrella Lopez  25 , Anna Ambrosini  26 , Heimo Müller  27 , Robert Reis  28 , Fabrizio Bianchi  29   30 , Yaffa R Rubinstein  31 , Hanns Lochmüller  32   33 , Domenica Taruscio  34
Affiliations

Recommendations for Improving the Quality of Rare Disease Registries

Yllka Kodra et al. Int J Environ Res Public Health. .

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.

Keywords: patient registry; quality; rare diseases.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
A framework for quality management of RD registries.
Figure 2
Figure 2
Examples of Case Report Form module.
See this image and copyright information in PMC

References

    1. The Council of the European Union Council Recommendation of 8 June 2009 on an Action in the Field of Rare Diseases (2009/C 151/02) Off. J. Eur. Union. 2009;C151:7–10.
    1. Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the Application of Patients’ Rights in Cross-Border Healthcare. Off. J. Eur. Union. 2011;L88:45–65.
    1. Orphanet Report Series-Rare Disease Registries in Europe—May 2018. [(accessed on 20 June 2018)]; Available online: http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf.
    1. RD-Connect. [(accessed on 19 June 2018)]; Available online: https://rd-connect.eu/
    1. Guidelines for Data Sources and Quality for RD Registries in Europe. [(accessed on 20 June 2018)]; Available online: http://www.epirare.eu/del.html.

Publication types

LinkOut - more resources