The European Reference Network for Rare Neurological Diseases

Abstract

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.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

“…Unsolved WES datasets (fastq) from 2048 families with RNDs were submitted by clinical sites of ERN-RND [ 4 ] to the RD-Connect Genome-Phenome Analysis Platform. Genomic data were processed and filtered as detailed [ 5 ].…”

The Architecture of Contemporary Care Networks for Rare Movement Disorders: Leveraging the ParkinsonNet Experience

“…One example of how clusters for rare movement disorders could look like, are those that have been proposed within the European Reference Network for Rare Neurological Diseases (ERN-RND; see contribution by (19); doi: 10.3389/fneur.2020.616569). This network has a strong focus on rare movement disorders, and has used (1) cerebellar ataxias and hereditary spastic paraplegias, (2) Huntington's disease and other choreas, (3) dystonia, paroxysmal disorders, and neurodegeneration with brain iron accumulation, (4) atypical parkinsonian syndromes as the four main clusters.…”

Development of a Patient Journey Map for People Living With Cervical Dystonia

“…Additionally, patient journey tools are increasingly used as a baseline for designing and improving treatment algorithms and developing costing models that can be used to audit the impact of service improvements [20]. As part of the ongoing European Reference Networks for Rare Neurological Diseases (ERN-RND) program [21][22][23], we aimed to develop a patient journey map for CD that describes the patient experience from pre-diagnosis through to long-term treatment. The CD patient journey map (CDPJM) is presented from the perspective of a 'typical' patient (Lilly), a persona developed based on the feedback of the patient survey.…”