Innovative FAIRification solution for a Rare Diseases Patient-led Registry

    Case Study: Duchenne Data Platform

    Principal Author: Nawel Lalout

    The reality for patients with Duchenne and Becker Muscular Dystrophy (DMD/BMD) is that from the moment of diagnosis, they are seen by different healthcare professionals. Consequently, a wide range of health data is produced. These data are kept in different data systems and their (re)use is prevented by prevailing silo mentalities. The adoption of FAIR data practices by all stakeholders who manage, and own these data systems can address this usage problem. As such, the DMD/BMD patient community pledged to make DMD/BMD-related data FAIR, i.e., Findable, Accessible, Interoperable, and Reusable for humans and machines.

    The first Duchenne registry to undertake a FAIRification process is the Duchenne Data Platform (DDP), managed by a patient organization in the Netherlands – The Duchenne Parent Project. The successful deployment of an innovative FAIRification solution called ‘FAIR-in-a-Box’ saw DDP reach a FAIR status within 12 months. ‘FAIR-in-a-Box’ consists of an automated FAIR transformation workflow, where cloud-based servers are communicating with each other through secure API calls. The FAIRIfication approach is innovative because: It provided minimal disturbances by adding a FAIR layer on top of existing infrastructure It is modular and template-based, allowing individual components to be added with other registries. It used a generic FAIRIfication process, based on international standards.

    To foster change and support others with similar FAIR projects, the Duchenne Parent Project made the ‘FAIR-in-a-Box’ solution open source. We are now ready to upscale our FAIR efforts to make DDP interoperable with other rare disease registries.

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