1. P203 Proven interoperability of five neuromuscular rare disease registries.
- Author
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't Hoen, P., Lalout, N., Vroom, E., Franken, M., Jäger, D., Tassoni, A., Kampowski, T., Delattre, H., Hamroun, D., Molthof, R., de Jong, I., Quemada, E., Atalaia, A., Evangelista, T., and Wilkinson, M.
- Subjects
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NEUROMUSCULAR diseases , *MEDICAL registries , *RARE diseases , *SPINAL muscular atrophy , *POLYNEUROPATHIES - Abstract
Data relevant to the diagnosis, care and treatment of patients with neuromuscular disorders are kept in different data systems and their joint (re)use is prevented by prevailing silo mentalities. The adoption of FAIR (Findable, Accessible, Interoperable and Reusable) data practices by all stakeholders who build, manage, and own these data systems, can overcome this. We present a proof-of-concept demonstrating how five different rare disease registries for neuromuscular disorders achieved a FAIR status and are interoperable. After a joint effort from a number of partners building the EURO-NMD registry hub for the European Reference Network on neuromuscular disorders, it is now possible to conduct the same queries related to neuromuscular diseases in multiple, independent registries simultaneously, without exposing sensitive patient details. Example queries include "How many patients are in the registry with a certain diagnosis, age range and gender?" or "What is the average time between the earliest onset of symptoms and a final diagnosis?". The registries that participated in this proof-of-concept are: CRAMP (Computer Registry of All Myopathies and Polyneuropathies, Netherlands), DDP (the patient-led Duchenne Data Platform), DM-Scope (National registry for Myotonic Dystrophies, France), SMArtCARE (Clinical registry for Spinal Muscular Atrophy, Germany), and the EURO-NMD registry. The solution is based on technology that connects web addresses to database queries and is available from: https://github.com/markwilkinson/Duchenne-daru. The next steps are to onboard other neuromuscular registries and to increase the number and sophistication of the publicly available queries, all reviewed for security by both technical and rare disease experts. The EURO-NMD registry received funding from the European Union under grant no. 947598. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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