4 June 2020

It has become easier for scientists working with rare diseases to exchange research data. In a joint effort of researchers from Radboudumc and Amsterdam UMC, a rare disease registry codebook has been created. The codebook facilitates data exchange between institutions with different electronic data capture (EDC) software.

EDC software is used to design the electronic Case Report Form (eCRF) and collect data. There are many different EDC systems available, which complicates the combination and integration of the eCRFs from different studies or institutes. This stands in the way of the FAIR data principles: Findable, Accessible, Interoperable and Reusable.

A solution to this problem is the iCRF Generator, a tool that facilitates the interoperability of eCRFs from different EDC systems. The iCRF generator uses data codebooks available in NICTIZ as a template to define information standards with the help of ontologies. Researchers from Radboudumc and Amsterdam UMC joined hands to create a codebook that provides a clear overview of the European wide accepted standards for Common Data Elements (CDEs) of rare disease registries. This codebook captures the CDEs with ontologies to bring together the definition (for humans) as well as the identifiers/code used to semantically annotate each one of them (for computers), ensuring interoperability of data for the field of rare diseases.

Within the context of the European Joint Programme on Rare Diseases, the researchers are working on the implementation of FAIR registries. A first FAIR registry is Radboudumc’s VASCA registry for patients with vascular malformations, jointly designed by Radboudumc, LUMC and CastorEDC. 

"With the iCRF developers, we  made the VASCA codebook available in such a form that all the 24 European Reference Networks for rare diseases can use a common template, instead of designing eCRFs from scratch." - Bruna dos Santos Vieira.  

This has been made possible by the contributions of many people:

  • Development and Implementation of Vasca registry and semantic model: 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
  • Development of Codebook: Gurnoor Singh, Bruna dos Santos Vieira, Peter A. C. ’t Hoen, Sander de Ridder, Jeroen Beliën
  • Development Common Data Elements: European Joint Research Center - JRC.
  • Funders: Radboudumc, VASCERN, EJPRD 
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