The Duchenne Data Platform (DDP) is a patient-led registry created in 2019 and managed by Duchenne Parent Project in the Netherlands. It is a user-friendly, GDPR-compliant online environment, accessible via the internet or App. The development started from the principle that patients are the owners of their data. What makes this platform unique is that patients have their own ‘data lockers’ where they can not only collect their PROMs but can also upload their data from other sources such as hospitals and wearables. By using dynamic informed consent, patients can decide who can access their (anonymised) data. They can also ask questions directly to the platform. Only patients (or their parents/caregivers) and administrators are participating in DDP.
Duchenne Commitment to FAIR
The Duchenne Community and in particular, Duchenne Parent Project, Duchenne Data Foundation and World Duchenne Organization are fully committed to making Duchenne resources FAIR . In 2019, a Duchenne FAIR Declaration was written to guide future steps towards Duchenne Data being more Findable, Accessible, Interoperable and reusable, for humans and computers (FAIR). In 2020, Duchenne Parent Project commissioned IT, FAIR and project experts to start the implementation process. FAIR expertise is being provided by a core team, composed of team members from Leiden University Medical Center in the Netherlands (Marco Roos, Rajaram Kaliyaperumal and Nuria Queralt Rosinach) and team members from FAIR Data Systems based in Spain (Mark Wilkinson and Mario Prieto).
Mark Wilkinson is one of the co-authors of the original article on the FAIR Guiding Principles (Wilkinson M.D et, al). The project is being managed by Nawel van Lin, Project Manager Duchenne FAIR Data at Duchenne Parent Project.
DDP’s FAIRification process in 10 steps
The FAIRification process of the Duchenne Data Platform started in September 2020 with a completion date set to December 2021. The scope of the project is to achieve real-time interoperability with other Duchenne registries, repositories, databases and EURO-NMD. In the longer-term, DDP will be linked to other sources of data from Duchenne research field, making data ‘visiting’ possible.
The steps below are a summary of a more detailed and technical FAIRification process:
- (Completed) – Demonstrated FAIR implementation of one type of data record to test feasibility
- (Completed) – Defined driving question and prioritised CDEs collected by the platform
- (On-going) – Development of a FAIR data transformation pipeline
- (On-going) – Development of a new model for mapping PROMs
- (To do) – Make data and metadata linkable using semantic models
- (To do) – Implement and test FAIR Data Point with access control
- (To do) – Store FAIR Data in a safe Duchenne repository
- (To do) – Release FAIR version of platform and assess FAIR data through Federated Queries
- (To do) – Make FAIR version of platform robust and more sustainable
- (To do) – Evaluate process and publish a paper
DDP FAIR team is optimistic in regards to being on-track with the initial FAIR transformations for a completion by the end of March, where a demo will be shown. This will complete the first part of the FAIR project. The next steps will be to make the FAIR version of the Platform robust and more sustainable, ready to be linked to the EURO-NMD registry hub. Having a FAIR registry will facilitate intensive research of multiple Duchenne sources within the ERN but also by inviting other Duchenne registries from members of the World Duchenne Organization to also embrace FAIR (Figure 1).
Figure 3: FAIR beyond national borders: DDP to be linked through the FAIR technology to EURO-NMD, CRAMP, DMScope, SMArtCARE and other Duchenne Patient Organisations around the world.
 Meeting on data sharing for Duchenne. Neuromuscular Disorders 29 (2019) 800-810 Doi:https://doi.org/10.1016/j.nmd.2019.08.01