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#apaperaday: EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Today’s pick is from @ojrarediseases again, this time by Ataliaia et al on the @euro_nmd registry, which is a collaboration between clinical centers and patient organisations. doi: 10.1186/s13023-024-03059-3.

Rare diseases are by definition rare, and often heterogeneous and each disease is often geographically dispersed. Consequently, data on epidemiology and natural history are difficult to collect unless one collaborates. The European Reference Networks are one such collaboration.

ERNs are clinical networks that collaborate with patient organisations to enhance homogeneous care across Europe but also to facilitate natural history data collection and trial recruitment and promoting research. For neuromuscular diseases, the @euro_nmd ERN has been established.

To allow collecting data, registries are important. There are many neuromuscular registries in place, with different purposes (e.g. collecting data on undiagnosed patients, trial recruitment, natural history follow up etc) and therefore also capturing different items.

To make registries interoperable, e.g. between different countries, it is important to harmonize ontology (i.e. use the same word for the same symptom). Back to @euro_nmd it is a collaboration between 82 healthcare providers and 27 patient organisations from 25 EU countries.

As a pilot for the registry hub, @euro_nmd collaborated with @worldduchenne the Duchenne data foundation and @Telethon_France to build a patient-centered registry hub. The patient organisations actively contributed with expertise, staff, and money.

Patients’ representatives are also involved in government of the registry. Authors outline the system, which is GDPR compliant, and also has a system to give access to who have access, ensuring security and backing up. Importantly, each patient can access and manage their own data.

The registry can capture static data on enrollment (things that do not change like date of birth), clinical data during each visit to the clinic and unscheduled data. The idea is that in the future also patient-reported outcome data (PROM) can be collected.

Registries can collect endless amounts of data. Authors outline that items should be relevant to the patients. The registry is FAIR (findable, accessible (for those who should have access), interoperable and reusable).

When researchers have queries, the data is checked locally for this, rather than transferred to the researcher. For sustainability, authors outline that it is important to have a champion for each local registry.

I fully agree – you need someone to take responsibility and custodianship or it will be difficult. Authors outline that for oversight committees who determine who has access to the data, it is important to consider conflicts and that transparency is crucial.

As mentioned before, patients have access to their own data. Authors are working on a data locker for patients to safely store their data and empower them to use and share this data. Finally, the system was built with input from the users putting in the data.

I like the way clinicians and patients collaborated to build this registry platform. The hub will be useful to e.g. identify what the time is before someone is diagnosed with a given neuromuscular disease. This can identify gaps and bottlenecks.

And then one can try to see the cause and address this (training, tools, extra staff etc). Kudos to the authors because even though I’ve never been directly involved in registry building and maintaining, I’ve heard enough to know it is difficult and laborious.