European Reference Networks (ERNs) are virtual networks that bring together healthcare providers and specialists across Europe to improve the diagnosis, treatment, and management of rare and complex diseases. They were launched by the European Union (EU) in 2017 to enhance collaboration and ensure that expertise and best practices are shared across borders between EU members. This will guarantee that Rare Disease patients receive homogeneous, high-quality care across all EU member states.
One essential tool for that mission is to enable data exchange for the purpose of care. The Clinical Patient Management System is the primary tool for that purpose (https://cpms2.ern-net.eu/screen/public). In addition, propelling research to speed the diagnosis and find new treatments for rare diseases is an unmet need for our patients. The rare disease registries come in that direction of identifying patient cohorts, proposing clinical trial participation and enabling treatment discovery for our patients.
The existence of multiple rare disease registries presents a significant challenge: fragmentation. This fragmentation occurs when data on rare diseases is scattered across numerous independent registries, leading to inefficiencies and limiting the potential benefits of these databases. Some of these are started for short periods as imposed for pharmacovigilance by regulatory authorities; others are specific for a disease or a group of diseases; some have a regional or national scope, and others are international. In addition, registries often do not share formats, definitions, and methodologies, making it difficult to compare or integrate information. Additionally, access and interoperability are usually not built into their making, resulting in precious data being siloed and not shared.
The EURO-NMD Registry collects data from all neuromuscular patients (covering diseases like Myopathies, Neuropathies, Neuromuscular Junction Disorders, Mitochondrial Diseases, and Motor Neuron Disorders) seen at EURO-NMD’s expert centres and is FAIR by design. This means that the FAIR guiding principles for scientific data management and stewardship are built into it, enabling data exchange from its inception. FAIR stands for "Findable", "Accessible", "Interoperable", and "Reusable". Four national or disease-specific patient registries are now FAIR-interoperable with the EURO-NMD Registry, allowing for federated analysis across these different resources as demonstrated by a successful proof of concept with mock data. SMArtCARE, Data Duchenne Platform, DM-Scope, and CRAMP are currently enabling real data exchange within the EURO-NMD Registry Hub (see Figure). The advantage of the FAIR approach is that data queries are "circulated" across the participating registries without data transfer, thus solving ethical and regulatory restraints for health data, known as GDPR. This enables, for example, to alert the centres that follow patients between a specific age range suffering from a condition but still ambulatory so that they can be informed about a clinical trial for their disease. The patient’s identity is only accessible to their clinicians and is not available in the registry, a process known as "Pseudonymization". In-kind contributions from three patient organisations (AFM-Téléthon, Duchenne Data Foundation, and World Duchenne Organisation) have ensured that the registry is patient-centred, meaningful, and impactful while providing the highest degree of patient data protection. The consenting process covers beyond-care uses, such as research, cohort finding and trial readiness and was conceived with and by the patient’s representatives, who were involved at all stages of the process.
HCPs in the ERN are estimated to see more than 100,000 NMD patients annually. EURO-NMD healthcare providers and patient organisations are active in more than 120 primarily disease-specific and patient-run registries. Consequently, we anticipate that the EURO-NMD Registry Hub has the potential to aggregate a significant amount of data to benefit Rare Neuromuscular Patients’ diagnosis and treatment, propelling better care and enhanced research opportunities.