EURO – NMD Registry Hub: Patient centred and interoperable registry hub for Rare Neuromuscular Diseases
Principal Author: António Atalaia
Answering questions about neuromuscular disorders requires information from different sources and countries. In rare diseases, these data are currently very fragmented.
The traditional solution to this problem is to collect the data by asking the individual registries to share their data. However, this centralisation effort means a lot of duplication of effort in maintaining the various resources, which is difficult to sustain. It comes with synchronisation issues and legal restrictions. Sometimes sharing data across national borders is simply impossible for computational reasons. The way forward is not data sharing, but data visiting. In the data visit concept, the questions or analysis algorithms travel to the data, instead of the data to the analysis. The data visit solutions accelerate progress towards earlier diagnosis and new treatments of rare diseases. It prevents double entry and ambiguity. It standardises and harmonises the data set only once at the source.
The Euro-NMD Registry Hub is a FAIR registry where interoperability and FAIRification is realised. This means that it is now possible to combine medical records written in different languages,formats and stored in separate registries. Soon, data will be collected from patients seen by 84 healthcare providers, across 25 countries, participating in the EURO-NMD network. The EU-funded project will demonstrate how these data can be interoperable with four existing patient registries: CRAMP, DMScope, Duchenne Data Platform and SMArtCARE. The proof-of-concept was recently realised to demonstrate the value of querying FAIR data between two FAIR registries: the Duchenne Data Platform and the EURO-NMD Registry Hub.
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