Registry Hub for Rare Neuromuscular Diseases

Patient centered and interoperable registry hub for Rare Neuromuscular Diseases

"The general objective of this proposal is to build a registry hub for all neuromuscular diseases, including undiagnosed patients, and connect with the existing ones."

"The EURO-NMD Registry Hub will use internationally agreed, state of the art concepts such as being built with a system that will collect standardized common data elements, defined by the Joint Research Center (JRC)."

Patient registries are key instruments for the European Reference Network to be able to deliver its objectives

A recognised challenge for rare diseases is the heterogeneity of legacy data sets and the multiplicity of existing registries. EURO- NMD health care providers and patient organizations are currently active in more than 120, mostly disease specific and patient run registries.

While the existing registries are collecting important information, none of them is used by all EURO-NMD centres and there is no unified NMD or NMD Disease Specific Registry in EU.

The Euro-NMD Registry Hub intends to both collect data from the patients seen by the 61 HCPs that participate in the Euro-NMD network but also use the data entered in existing disease-specific registries by ensuring the interoperability with those registries that allows federated queries to be run from the Euro-NMD Registry Hub platform.

Our initial tasks will be the implementation of the Common Data Elements adopted by the EC and developed by the Joint Research Centre in each HCP and definition of key performance indicators for 5 distinct disease-areas (Myopathies, Neuropathies, Mitochondrial Disorders, Neuromuscular Junction Disorders and Motor Neuron Disease) to reflect best the benefits patients receive from being cared by an ERN healthcare provider.