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
Related news items
The Postdoctoral Networking Tour in artificial intelligence2 July 2020
You are a postdoctoral researcher in the field of artificial intelligence? The Postdoc-NeT-AI offers you the opportunity to participate in one week of on-site visits to leading German universities, research institutes and companies. Apply now to this year's tour until 16 August 2020.read more
Register for Phd courses via gROW What does this mean for you?2 July 2020
From now on you can arrange everything related to the general RU PhD courses via gROW. Because of this there will be some changes in the registration! What does this mean for you?read more
Experts on metabolic diseases still an unknown major problem...1 July 2020
Six Dutch UMCs and a patient association contribute to treating and solving this major, often unknown, problem. Timely detection of metabolic diseases is vital. Therefore, Radboudumc is also part of the consortium “United for Metabolic Diseases”.read more
Radboud Pluim for Lionne Ekers ambassador for the RIMLS institute30 June 2020
Lionne Ekers received the Radboudpluim for her special merits for the Radboudumc. She is a born ambassador for our Institute.read more
Stefan Listl member Lancet Commission on Oral Health29 June 2020
In recognition of the global public health importance, woeful neglect of oral diseases, and the need for a broader understanding and commitment to global oral health within medicine and global health agendas, The Lancet recently established a Commission on Oral Health.read more
Trained immunity: a tool for reducing susceptibility to and the severity of SARS-CoV-2 infection29 June 2020
In a review in Cell Mihai Netea, Frank van de Veerdonk, Reinout van Crevel and Jorge Dominguez Andres propose that induction of trained immunity by whole-microorganism vaccines may represent an important tool for reducing susceptibility to and severity of SARS-CoV-2.read more