The European Reference Network for Rare Neurological Diseases.

While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a specific group of rare or low-prevalence complex diseases, were formed to improve the care for patients with an RD. One major aim is to have "the knowledge travel instead of the patient," which has been put into practice by the implementation of the Clinical Patient Management System (CPMS) that enables clinicians to perform pan-European virtual consultations. The European Reference Network for Rare Neurological Diseases (ERN-RND) provides an infrastructure for knowledge sharing and care coordination for patients affected by a rare neurological disease (RND) involving the most common central nervous system pathological conditions. It covers the following disease groups: (i) Cerebellar Ataxias and Hereditary Spastic Paraplegias; (ii) Huntington's disease and Other Choreas; (iii) Frontotemporal dementia; (iv) Dystonia, (non-epileptic) paroxysmal disorders, and Neurodegeneration with Brain Iron Accumulation; (v) Leukoencephalopathies; and (vi) Atypical Parkinsonian Syndromes. At the moment, it unites 32 expert centers and 10 affiliated partners in 21 European countries, as well as patient representatives, but will soon cover nearly all countries of the European Union as a result of the ongoing expansion process. Disease expert groups developed and consented on diagnostic flowcharts and disease scales to assess the different aspects of RNDs. ERN-RND has started to discuss diagnostically unclear patients in the CPMS, is one of four ERNs that serve as foundation of Solve-RD, and has established an RND training and education program. The network will facilitate trial readiness through the establishment of an ERN-RND registry with a minimal data of all patients seen at the ERN-RND centers, thus providing a unique overview of existing genotype-based cohorts. The overall aim of the ERNs is to improve access for patients with RDs to quality diagnosis, care, and treatment. Based on this objective, ERNs are monitored by the European Commission on a regular basis to provide transparency and reassurance to the RD community and the general public.
Competing Interests: TG has received research support from the Deutsche Forschungsgemeinschaft (DFG), the Bundesministerium für Bildung und Forschung (BMBF), the European Union (EU), and the National Institutes of Health (NIH). He has received speakers honoraria from, Roche, Teva and UBC. SG received institutional research support from Shire plc, outside of the submitted work. He is advisor and co-investigator for trials in Metachromatic Leukodystrophy (Shire/Takeda, Orchard), but receives no personal payment related to this role. TK has received research support from the Deutsche Forschungsgemeinschaft (DFG), the Bundesministerium für Bildung und Forschung (BMBF), the Bundesministerium für Gesundheit (BMG), the Robert Bosch Foundation, the European Union (EU), and the National Institutes of Health (NIH). He has received consulting fees from Biohaven, Roche and UBC. He has received a speaker honorarium from Novartis and Bayer. IL served as a member of advisory boards for Prevail Therapeutic and received research grants from ANR, DGOS, Vaincre Alzheimer Association, ARSla Association, Fondation Plan Alzheimer outside of the present work. Unrelated to the present work, WM has received fees for editorial activities with Springer and Elsevier, has served as advisor for Lundbeck and Biohaven, and has received teaching honoraria from UCB. MT reports grants from the Netherlands Organization for Health Research and Development ZonMW Topsubsidie (91218013), the European Fund for Regional Development from the European Union (01492947) and the province of Friesland, Dystonia Medical Research Foundation, from Stichting Wetenschapsfonds Dystonie Vereniging, from Fonds Psychische Gezondheid, from Phelps Stichting, and an unrestricted grants from Actelion and AOP Orphan Pharmaceuticals AG. NW is advisor and co-investigator for trials in Metachromatic Leukodystrophy and other leukodystrophies (Shire/Takeda, Orchard, Ionis, PassageBio), but receives no personal payment related to this role. HG has received research support from the Deutsche Forschungsgemeinschaft (DFG), the Bundesministerium für Bildung und Forschung (BMBF), the Bundesministerium für Gesundheit (BMG) and the European Union (EU). He has received consulting fees from Roche. He has received a speaker honorarium from Takeda. GL receives/has received research support from Bundesministerium für Bildung und Forschung (BMBF), CHDI Foundation, Deutsche Forschungsgemeinschaft (DFG), the European HD Network (EHDN), and the European Union (EU - Horizon2020, JPND), GL serves/served at Scientific Advisory Boards of Hoffmann-LaRoche, Novartis, PTC Therapeutics, TEVA, Triplet Therapeutics & Takeda and provided scientific advice to Acadia Pharm, AOP Orphan, Boehringer-lngelhe1m, CHDI Foundation, lonis Pharma, Lundbeck, NeuraMetrix, Prilenia, and Wave. MM received research support from the National Research, Development and Innovation Office for the National Brain Research and the National Bionics Projects. She has received consulting fees from Richter Gedeon Plc, Novartis, Sanofi-Genzyme, PTC Therapeutics, Stealth Biotherapeutics, Amicus, Takeda, and Biogen. She has received a speaker honorarium from Johnson and Johnson and AOP Orphan. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2021 Reinhard, Bachoud-Lévi, Bäumer, Bertini, Brunelle, Buizer, Federico, Gasser, Groeschel, Hermanns, Klockgether, Krägeloh-Mann, Landwehrmeyer, Leber, Macaya, Mariotti, Meissner, Molnar, Nonnekes, Ortigoza Escobar, Pérez Dueñas, Renna Linton, Schöls, Schuele, Tijssen, Vandenberghe, Volkmer, Wolf and Graessner.)