15 February 2024

The EURO-NMD Registry paper has just been published on the Orphanet Journal of Rare Diseases. As it is open access you can read it here: click to open in another tab

We leave below a Q&A teaser about what is discussed inside the paper.

Why EURO-NMD Registry Hub?

• The EURO-NMD registry is connected to what is called ‘EURO-NMD Registry Hub’ through an interoperability layer
• The Hub provides an entry point to other neuromuscular registries that follow the FAIR data stewardship principles and enable GDPR-compliant information exchange
• Four national or disease-specific patient registries are interoperable with the EURO-NMD Registry, allowing for federated analysis across these different resources.
• Collectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.

Why having a FAIRified Registry?

• To answer complex and specific questions automatically without moving data
• To gain richer insights by accessing (with right access conditions) more datasets in multiple registries
• To make HCP data resources discoverable by other authorised stakeholders, driving collaboration
• To publish “FAIR data”, that will adhere to data-focused Journal’s best-practices (e.g. Scientific Data from the Nature Publishing Group, and/or GigaScience), and thus allow new possibilities for high-impact, data-centric publications
• To ultimately contribute significantly to improve care and treatments’ research for the neuromuscular diseases community.

What difference does it make for our patients?

• The EURO-NMD Registry Hub is designed as a clinician-patient partnership.
• Patients representatives have participated in all stages of the Registry design and implementation
• The Registry answers unmet needs of patients for improved research and better care for all neuromuscular diseases
• Patients contribute with Patient Outcome Measures along side clinical-entered data and decide what is meaningful for their care
• Patients sit at Registry Steering Committee and the Data Access Committee and have a say in the governance of the registry and in the access to and sharing of patient data 

Click here to read the paper