2 July 2020
Friday June 26 – Today, over 20 project partners from 7 organizations participated in the joint kick-off of the EURO-NMD Registry Hub project. The goal is to build a registry hub for all neuromuscular diseases, including undiagnosed patients, and connect with existing ones. The registry hub will offer the unique opportunity to the fragmented NMD communities and their healthcare professionals, centers, patients and patient organizations to communicate between them and exchange knowledge, experience and news.
EURO-NMD, ERN for Rare Neuromuscular Diseases, spans 14 European countries, with 61 reference centres that oversee more than 100,000 patients. Core objectives are the implementation of clinical practice guidelines and the definition and monitoring of core indicators of guideline conforming management, treatment quality and patient health outcomes.
Patient registries are key instruments for the ERN 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 healthcare 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 the EU.
The general objective 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).
It will be registered in the JRC’s meta-registry platform ERDRI, will allow for the generation of a Privacy Preservation Record Link (PPLR) through the EUPID system, it will use internationally accepted ontologies (HPO) and ORPHA codes for codification of the diseases. Development of a registry hub that will allow linking and extraction of data from different sources. Thus, the data collected through the registry hub will be Findable, Accessible, Interoperable, and Reusable (FAIR).