RND - European Reference Network for Rare Neurological Diseases

The ERN-RND on rare neurological diseases includes a very large group of pathologies often on a genetic basis that cover the entire span of life from the pediatric age to the elderly. Many such as genetic Parkinson's disease, Progressive Supranuclear Palsy and other Tauopathies, Fronto-Temporal dementias, choreas, dystonias and ataxias are quite frequent and require both surgical and pharmacological targeted treatments. For this reason, the ERN aims to respond to the health needs, still not satisfied, of the over 100,000 thousand people who are affected by it in Italy and their families. Given the phenotypic and genotypic heterogeneity of patients with rare neurological diseases, an important number of these patients remain undiagnosed.
The ERN-RND aims to fill these gaps through the implementation of dedicated clinics and multidisciplinary virtual consultations increasing by 20% the patients who will be included in the registries and proposing to improve by 20% the number of patients for whom a definitive diagnosis is formulated. These patients and their families will have the opportunity to access multidisciplinary care-pathways in collaboration with the European Pathway Association and ORPHANET. The ERN builds on the existing infrastructure born from the integration of multiple collaborative groups on some rare neurological diseases and enriching the registries that have already been activated for these diseases, such as dystonias, Huntington's disease and Ataxia.
Furthermore, an external quality assessment system will be organized in order to standardize key diagnostic tests in cooperation with the European Molecular Genetics Quality Network ensuring that all patients have access to the same diagnostic opportunities. The ERN-RND will promote the organization of training events and promote research and therapeutic innovation and ensure that the voice of patients and the organizations that represent them is heard.