A rare disease registry
codebook has been created thanks to a joint effort by researchers from
Radboudumc and Amsterdam UMC (VASCERN Healthcare Providers (HCPs)).
Access the codebook here
EJP RD is designing templates for FAIR registries. The Vascular Anomalies (VASCA) registry for patients with vascular malformations, jointly designed by Radboudumc, LUMC and CastorEDC and led by VASCA Working Group Co-Chair and VASCERN Registry Group Chair, Professor Leo Schultze Kool, is one of the first FAIR registries that implemented the European wide accepted standards for Common Data Elements (CDEs) of rare disease registries.
To facilitate the application of the template to other
registries, EJP RD partners Radboudumc and Amsterdam UMC joined forces and
created a codebook for the CDEs. The codebook contains the mappings of the CDEs
to ontologies and brings together the definition (for humans) as well as the
identifiers/code used in the EJP RD CDEs Semantic Model to
annotate each data element (for computers), increasing interoperability of
data. The codebook can be used via the iCRF Generator Tool, which
takes the content of the codebook, and creates interoperable CRFs (iCRFs) that
can be implemented by several major EDC software providers, such as Castor
(used by the VASCA Registry) and RedCap. This allows for an easier integration
of data from registries built by different EDC software and consequently to
databases that follow the FAIR data principles: Findable, Accessible,
Interoperable and Reusable.
“The iCRF developers and the VASCA team made the CDE codebook available in such a form that all the 24 ERNs for Rare Diseases can reuse a template, instead of designing eCRFs from scratch while implementing their registries.” – Bruna dos Santos Vieira, Data Steward at Radboudumc.
We congratulate everyone who made this possible, including:
- Karlijn Groenen, Annika Jacobsen, Martijn G. Kersloot,
Rajaram Kaliyaperumal, Ronald Cornet, Peter A. C. ’t Hoen, Bruna dos Santos
Vieira, Marco Roos, Leo Schultze Kool (the development and implementation team
of the VASCA registry and semantic model)
- Gurnoor Singh, Bruna dos Santos Vieira, Peter A. C. ’t
Hoen, Sander de Ridder, Jeroen Beliën (for the development of the codebook)
- European Joint Research Center – JRC (development of
Common Data Elements)
- Radboudumc, VASCERN, EJP RD (Funders)
We hope that this codebook will assist other ERNs in
creating their FAIR registries and we will update you soon with more
information on the VASCERN Registry project.