ERN-RND is a network of 32 Healthcare Providers from 13 EU member states. ERN-RDN builds on existing expert centres and mature networks dedicated to rare neurological diseases (RND) as well as established rare disease infrastructures such as Orphanet, EURORDIS and RD-Connect. Through coordination and knowledge transfer, ERN-RND shall establish a patient-centred network to address the needs of patients with RND of all age groups, with or without a definite diagnosis, by implementing an infrastructure for diagnosis, evidence-based management, treatment and collection of patient data. The network will develop, disseminate, implement and supervise best practice guidelines and care pathways to optimize patient care and facilitate training and capacity building in the field. A special effort will be aimed to member states with less developed infrastructure for caring for RND patients, where no current partners are located, or with only affiliated or collaborative partners. ERN-RND will inform planning of European and national health care in RND, facilitating translation of research activities into clinical practice and the development of future therapies. ERN-RND’s strategic objectives for the first five year period are: 1. To increase by at least 20% the overall percentage of RND patients with a final diagnosis; 2. To improve care of RND patients, reaching at least a 20% improvement in established outcome measures; 3. To develop, share and implement care pathways and guidelines for all RND groups represented in ERN-RND; 4. To create, develop and enhance constituents’ capacity to design, implement and supervise RND training, education and capacity building measures so that health care providers (HCP) of all EU member states actively participate in ERN-RND in the future; 5. To develop a comprehensive and data based European RND cohort to better understand these conditions and thus improve their management and help developing and testing treatments.
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Situation
The ERN-Skin aims to enhance high-level patient management for rare complex and undiagnosed skin disorders, by improving the: quality, safety, access to highly specialized healthcare. These diseases share: frequent misdiagnosis; lack of training of paramedics; frequent systemic involvement; poor recognition as a handicap; poor social integration.
Objectives
1.Better exchange of expertise; 2.Improved healthcare organization by pooling the resources; 3.Update/ develop guidelines in cooperation with overlapping ERNs; 4.Improved training of caregivers; 5.Patient/family therapeutic education; 6.Widespread general public information and recognition of the disease as a handicap, 7.Deep phenotyping for a common scientific language; 8.Development of an e-health platform allowing telemedicine and registries (research); 9.Comprehensive socio-economic study
Methods
1.Governance thought to ensure maximum geographical and target groups representativity and outreach across the EU; 2.Sub-thematic groups (specific clinical outcomes) and transversal groups (deep phenotyping, e-health& registries, training, common clinical outcomes); 3.Theoretical and practical courses for specialists and paramedics across the network and other ERNs covering different same symptoms; 4.Set up of a Patient Representative Council, representing all patient groups; 5.Communication and information: dissemination of Minutes, Reports in/outside the network; development of tools (website, newsletters, etc…); periodic meetings; 6.Support of European scientific societies
3rd HP relevance
ERN-Skin will facilitate access to better and safer healthcare for EU citizens by identifying centers with the necessary expertise and resources to treat rare diseases with skin involvement, as well as by sharing knowledge for an improved healthcare offer. ERN-Skin has a strong focus on developing innovative e-health tools for HCPs, thus facilitating cross-border access to expertise for effective patient management
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The European Reference Network for rare Hereditary Metabolic Diseases (MetabERN) aims to facilitate access to the best available care and address the needs across European borders of all patients affected by rare inherited metabolic diseases (IMDs) and their families. It is unprecedented that a pan-EU network covers expertise encompassing all IMDs (over 700) regardless of their incidence and prevalence, severity, availability of treatment and characteristics of patient population. MetabERN is driven by the principle of patient-centeredness for the provision of its services aiming at improving the quality of life of patients and families. In this spirit, family associations (FAs) play a crucial role into the planning and decision-making system related to patient care and management as well as policy activities impacting on the EU Rare Disease Policy Agenda. World-known experts will work hand-in-hand with FAs to develop guidelines for accurate diagnosis and optimal management of IMDs in order to strengthen referral systems across the border. MetabERN will facilitate access to treatment by channeling expertise through virtual and web-based platforms to minimize patient mobility. MetabERN will serve as a hub of knowledge and information by connecting the most relevant scientific associations and EU established networks in this area. A structured collaboration is activated with other European Reference Networks with overlapping disease areas to ensure that patients receive the best available care. Knowledge of IMDs will increase among target groups, mainly Healthcare Professionals, Patients and Researchers, thanks to the tailored training activities that will be developed after a thorough check of their needs. Early uptake of medical advances will be bolstered by developing recommendations to overcome the barriers to translational research. Our focus on safety and cost-effective treatments will drive the future IMD research agenda for the next 10 years.
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