Vascular Anomalies Registry (VASCA)

Project summary

VASCERN  (European Reference Network on Rare Multisystemic Vascular Diseases) aims to build and connect existing registries using the FAIR principles. This project describes how we set up a FAIR registry for VASCA (the vascular anomalies working group from VASCERN) in one of its centres, Radboud university medical centre. VASCA collects the set of common data elements for rare disease registration, FAIR at the source. By doing all the hands-on work for the FAIRification before data collection, data is made FAIR by entering them into an Electronic Data Capture (EDC) system. De novo FAIRification mitigates the need for post-hoc FAIRification operations, which include repeated, semi-manual conversions of the data collected into machine-readable data performed after data collection. The de novo approach saves time and budget for the actual FAIRification of the data in the VASCA registry. To our knowledge, this is the first attempt to create a de novo FAIR RD registry.

Social impact

More access to data means more possibilities that new therapies can be developed/discovered. Some really rare diseases within the vascular anomalies domain (only a few per country) can be combined via links to genetic and phenotypes databases of overlapping syndromes. All will result in a better understanding of the disease and thus to a better treatment of the patient.

FAIR objectives

• to enable the CDEs for analysis across RD registries
• make the use of distributed RD data as effective as possible
• to implement de novo FAIRification in our VASCA registry, where data are made FAIR automatically and in real-time upon collection
• to link data from all participating centers without moving data from the centers
• to run analysis across multiple RD registries and other relevant FAIR data is made possible, even when access criteria differ per source        

Read more

General information on rare vascular disease registries
The de novo FAIRification process of a registry for vascular anomalies

FAIR elements involved

Findable

Accessible

Interoperable

Reusable

Key facts

• De novo FAIRification
• Real Time FAIRification upon data collection
• FAIRification at the source installed in electronic data capture system
• Data collected and controlled locally
• Local data from all centers can be queried in real time

Data type

• Clinical data

Organizations

• Radboudumc
• LUMC