Designed to meet the Third Health Programme objective to facilitate access to better and safer healthcare for EU citizens, the ERKNet Registry project aims to establish an online platform for the collection of information relevant to patient health and clinical research within the framework of the European Rare Kidney Disease Reference Network (ERKNet).
This will be accomplished by the construction and implementation of a single core registry encompassing all rare kidney diseases in pediatric and adult patients.
The ERKNet Registry will collect at annual intervals (1) a common data set providing basic information about clinical, histopathological and genetic diagnosis, patient status, current kidney function and treatment modality and available biospecimens, and (2) a selected disease-specific set of key performance and outcome indicators. The latter will be defined by the ERKNet workgroups in a structured consensus-building process involving evidence-based guideline review and an iterative Delphi surveys among internal and external experts.
The Registry will contain an automated statistics and benchmarking functionality to allow continuous monitoring and benchmarking of treatment quality, guideline adherence and patient outcomes.
Existing disease- and treatment specific registries used by a major fraction of ERKNet members will be linked to the ERKNet Core Registry to allow data transmission and avoid the need of double entries. A stringent data protection policy will be applied in full compliance with the EU directive and regulation as well as national regulations on patient privacy and data protection, including central peudonymisation with separate storage of medical and patient identifying information.
In summary, we are proposing an innovative Web-based registry solution with a patient-oriented focus on continuous healthcare quality inmprovement by automated performance monitoring and Network wide benchmarking.
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The objective of this project is to support Member States in improving gathering information on rare diseases by implementation of Orphacodes (rare diseases specific codification system). The implementation process will be guided by the "Standard procedure and guide for the coding with Orphacodes" and the "Specification and implementation manual of the Master file" both developed in the frame of the current RD-ACTION Joint Action. The aim of the Orphacode project is to promote the use of the Orphanet nomenclature for implementation into routine coding systems. This enables a standardised and consistent level of information to be shared at European level. Starting with countries that have no systematic implementation of the Orpha codification yet, but that are actively committed already in doing so, this project will provide a sufficient real-world implementation experience to be captured by other countries in the future. Outcomes are: 1. Development of comprehensive rules of use and meta-data documentation for Orphacodes use in clinical health information and other applications that has been developed and rigorously tested in health care systems from EC countries of varying sizes, health information systems, and languages 2. An electronic repository will be created to house this information at the Orphanet website, linking to Orphadata, to include: guidance for use of Orphacodes; teaching and training documents used in health care systems; tools for export of Orphacodes to federated data exploitation at the EC level. 3. Through collaboration of RDCODE partners and invited collaboration with key stakeholders at workshops, effective implementation will be achieved at implementing countries as well as momentum will be developed in other jurisdictions to implement Orphacodes in widespread use to accurately measure the impact of rare diseases in the EC.
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Endo-ERN covers an exceptionally large number of rare conditions across the age span. Whilst some conditions are covered in established international disease registries, there are several that are not. Collectively, the existing detailed disease registries display a number of qualities associated with good registry practice but the involvement of patients, participation by members of Endo-ERN and the research output of these registries is variable with a minimal capacity for interoperability. The central cause that has led to this variation is the lack of a core endocrine registry and the lack of core standards for registries. The overall objective of the European Registries for Rare Endocrine Conditions (EuRRECa) is to ensure that Endo-ERN acheives its mission of driving up standards of clinical care and patient-centred research through maximizing participation in disease registries. The project will do this by developing a new core endocrine registry that collects a core dataset that also includes objective markers of clinical outcome, runs an e-surveillance programme and signposts participants to high-quality, detailed, disease-specific and patient-centred registries that have been evaluated by EuRRECa. The project will achieve the above objective by building on the structure that has been created by Endo-ERN. EuRRECa will receive guidance from expert advisory groups that align with the thematic groups of Endo-ERN. Their guidance will flow through work packages that will review the needs of patients, parents and ethics, evaluate the quality and interoperability of datasets and combine them wth patient centred clinical outcomes. Clear policies that are acceptable to patients, researchers and industry for accessing data for research coupled with widespread dissemination and knowledge-exchange through closely affiliated professional endocrine societies, patient support groups and across all the ERNs will ensure that EuRRECa is sustained over the longer term.
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ERN-EuroBloodNet main goal is to improve the healthcare and overall quality of life of patients with a rare hematological disease (RHD) by facilitating best practice sharing for safe and high-quality cross-border healthcare and developing more evidence based clinical tools and cost-effective treatments. As a contribution to the 3rd Health Programme (objective 4-Facilitate access to better and safer healthcare for EU citizens), EuroBloodNet will aim at decreasing current cross-border health barriers. EuroBloodNet gathers 66 highly skilled multidisciplinary healthcare teams in 15 Member States, and advanced specialised medical equipment and infrastructures which will facilitate concentration of resources for the design, validation and implementation of high-quality and cost-effective services aimed at facing the challenges of RHD. Involvement from the outset of patient associations will contribute to patient empowerment, in keeping with EuroBloodNet patient-centred approach. EuroBloodNet’s objectives will be achieved through a) the implementation of a reliable repository of best healthcare services available across EU, guidelines for RHD, systematic assessment of clinical outcome indicators, assessment and promotion of ongoing clinical trials and collaborative research initiatives, and b) the development of inter-professional consultation systems and blended (on-site & on-line) educational programmes and short stays. Expected outcomes include reduction of healthcare inequalities for RHD in the EU by a)establishing a cross-border referral system allowing safe information, samples and patient mobility, b) provision of equal access to highly specialised procedures and innovative therapies resulting from best practice sharing, continuous medical education and virtual interprofessional consultation for complex RHD cases, and c)facilitation of a timely and efficient translation of research results into patient oriented strategy at the clinical and the public health level
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This is the VASCERN SGA Proposal for 2017, under the ERN Framework Partnership Agreement (FPA) 2017-2021.
The ERN is coordinated by the ERN Network Coordinator, Pr. Guillaume JONDEAU - AP-HP, H�pital Bichat-Claude
Bernard, CRMR Marfan Diseases and related disorders (Centre de R�f�rence Maladies Rares Syndrome de Marfan et
apparent�s).
VASCERN aims to facilitate and improve diagnosis, treatment and care for ALL patients suffering from Rare
Multisystemic Vascular Diseases, thus enhancing access to care, and improving quantity and quality of life of these patients.
Networking, sharing and spreading our expertise, promoting best practices, guidelines and clinical outcomes, patient empowerment, improving knowledge through clinical and basic research are among our objectives.
The European Reference Network on Rare Multisystemic Vascular Diseases gathers European highly specialized
multidisciplinary Healthcare Providers (HCPs) in this thematic area of expertise. The Network includes 5 Rare
Diseases Working Groups: Heritable Thoracic Aortic Diseases (HTAD-WG), HHT-WG, Medium Sized Arteries (vascular Ehlers Danlos) (MSA-WG) ,Pediatric and Primary Lymphedemas (PPL-WG) and Vascular Anomalies (VASCA-WG). The specific Patient Group enables Patient representatives to work on common issues and to be involved in all activities. In addition, several Thematic Working Groups are established to better tackle transversal issues which are planned in the Multiannual Work Programme on: eHealth, Training & Education, Patient Registry, Ethics, and Communication / Dissemination.
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The ERN-SKIN 2017 Work Programme aims at laying the groundwork for the key strategic objectives set forth in the 2017-2021 Work Plan. The objectives are:
• to build the operational framework and set up all the necessary functioning networking services, evaluated by a quality control strategy, with a special focus on:
--Patient Representatives Council to empower patients in the organization of cross-border healthcare pathways
--8 sub-thematic groups on high level patient management and research
--4 transversal groups: training & therapeutic education, e-health & registries, Deep phenotyping, clinical outcomes.
• to cover the largest possible number of diagnosed and undiagnosed rare and low prevalence skin disorders in order every patient finds a home in the ERN-SKIN with the inclusion of 4 new sub-thematic groups
• to integrate more members or affiliates, from Member States not yet represented in the ERN-SKIN with a particular attention for including small and Eastern European countries and involving in training activities Member Sates with insufficient number of patients or lacking technology or expertise
• to develop collaborative relationships with overlapping ERNs & Scientific Societies with the set up of common working groups to promote a multidisciplinary management
• to assess reliable resources for patients and healthcare providers thanks to survey on available services for patients and professionals, updated guidelines and best practices, validated therapeutic education programs, high-quality training sessions as well as efficient information and dissemination tools.
• to pool expertise and provide the first ERN-SKIN services: -- the first version ERN-SKIN directory ;
-- the first version ERN-SKIN website; --the first ERN-SKIN training; -- the development of the ERN-SKIN guidelines on ichthyosis; -- the definition of concrete road maps by each sub-thematic and transversal groups, a prerequisite to update/develop guidelines and build innovative e-health.
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Rare Hematological Diseases (RHD), covered by ERN-EuroBloodNet, involve more than 450 different diseases, malignant or non malignant, inherited or acquired, with different clinical and etiological features that preclude the use of a unique methodological approach to reach the common goals of the network. Nevertheless, the first working year of our network demonstrated that RHD share common problems including the frequent paucity of publicly accessible repositories of experts and facilities across Europe, leading to delays in diagnosis and treatment, and also gaps in education. Activities developed during the first year of ERN-EuroBloodNet’s activity therefore focused on gathering comprehensive information on experts and state-of-the-art guidelines for diagnostic and treatment procedures, as starting point for subsequent objectives.
The annual programme for the second year is structured in two main directions: a) Expand and exploit the dynamic ERN-EuroBloodNet repository of RHD experts and facilities gathered during the first year. Based on the gaps identified, new actions will be promoted to improve the delivery of best care and promotion of research and patient registries, b) promote continued medical education and patient education (also based on the identification of gaps in this field), especially through eLearning and preceptorships in expert centres. This annual programme will also promote the Clinical Patients Management System (CPMS) among ERN-EuroBlood Members, and help to customize it to the various RHD. ERN-EuroBloodNet will also cooperate with the ERNs coordinators group and other working groups in the field of rare diseases.
Policy reports will be elaborated to facilitate shaping of national health policies in order to improve the delivery of health services and the best allocation of resources needed for specific RHDs.


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This is the VASCERN Specific Grant Agreement Proposal for the second year of operation of the ERN (from March 2018 to February 2019), under the VASCERN Framework Partnership Agreement (FPA) 2017-2021.
VASCERN Network Coordinator is Prof. Guillaume JONDEAU, Cardiologist at the Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bichat-Claude Bernard, CRMR (Center of Reference) Marfan Diseases and related disorders.
VASCERN aims to facilitate and improve diagnosis, treatment and care for all patients suffering from rare multisystemic vascular diseases.
The European Reference Network on rare multisystemic vascular diseases (VASCERN) gathers European highly specialized multidisciplinary Healthcare Providers (HCPs) in this thematic area of expertise.
VASCERN includes 5 Rare Diseases Working Groups (RDWGs):
- Heritable Thoracic Aortic Diseases (HTAD-WG)
- Hereditary Haemorrhagic Telangiectasia (HHT-WG)
- Medium Sized Arteries (vascular Ehlers Danlos) (MSA-WG)
- Pediatric and Primary Lymphedemas (PPL-WG)
- Vascular Anomalies (VASCA-WG)
The specific VASCERN Patient Group (ePAG) enables Patient representatives to work on common issues and to be
involved in all activities.
In addition, several transversal Working Groups work on: eHealth, Training & Education, Patient Registry,
Ethics, Communication / Dissemination.
Our Action Plan for this second year will enable VASCERN to carry on with its work and reinforce its activities with regard to various Work Packages such as: Case discussion on the Clinical Patient Management System (CPMS), Patient Pathways, Clinical Guidelines / recommendations, Mobile Application (improvements), Patient Registry & clinical outcome measures, Communication (improvements), Training & Education, Pills of Knowledge, Clinical trials & research.
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ERN-Skin-2 proposal builds upon the ERN-Skin first year achievements and takes into consideration the recent development of the ERN IT platform (ERN Collaborative Platform and Clinical Patient Management System) and the EU policy regarding ERN. The ERN-Skin year 2 goals and activities are coherent with the ERN-Skin multiannual plan included into the Framework Partnership Agreement (FPA) and they contribute to achieve the ERN-Skin multiannual goals. The objectives are to:
• Strengthen the ERN-Skin operational framework thanks to regular meetings and conference calls of the ERN-Skin bodies
• Further develop teledermatology thanks to the organisation of 3 panels and the registeration all HCPs on the Clinical Patient Management System
• Update information on resources for patients and healthcare providers thanks to the interactive directory update
• Pool expertise thanks to:
- update and upload of information and documents on the ERN-Skin collaborative platform
- update of the ERN-Skin directory in cooperation with Orphanet
- update of the ERN-SKIN website and development of new sections inlucing one on updated list of guidelines
- organisation of the second ERN-Skin course as well as the first practical training, complemented by e-training
• Involve Member Sates with insufficient number of patients or lacking technology or expertise to provide highly specialized care thanks to the support for travel and accommodation for 5 HCPs from these member States to participate in the 2018 ERN-Skin course
• Integrate more partners, members or affiliates, from Member States not yet represented in the ERN-Skin
• Strengthen collaborative relationships with overlapping ERNs & Scientific Societies
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EURO-NMD is a clinically oriented approach to the thematic grouping of neuromuscular disorders that builds on many years of networking experience in the NMD field. NMDs include a broad group of diseases with overall prevalence of 1/3500-1/2500 that represent a major cause of mortality and morbidity in children and adults. Their rarity and diversity pose specific challenges for healthcare provision and research. While individually rare, NMDs collectively affect an estimated 500,000 patients in Europe and result in life-long disabilities with significant costs for families and the healthcare system. Regional and national differences in care and incomplete implementation of standards lead to international disparities and divergent outcomes for NMD patients. NMD patients often lack timely and accurate diagnosis, and this impacts on survival and quality of life. Even patients with a condition diagnosable with existing gene tests typically wait 7 years for diagnosis – EURO-NMD aims to decrease time to diagnosis through implementation of diagnostic guidelines. A further 30% may remain without a confirmed genetic diagnosis after extensive testing. Through next-generation sequencing EURO-NMD aims to diagnose a further 15% of patients within the 5-year period. The ERN is a partner in the SOLVE-RD project that aims exactly at solving the unsolved cases and is also a partner in the EJP-RD. NMDs require a multidisciplinary team experienced in the specific clinical needs of the conditions comprising the ERN sub-groups: muscle, nerve, motor neuron, mitochondrial and neuromuscular junction diseases. During the last 2 years the working groups have collected and endorsed guidelines and standard operating procedures in collaboration with the learned societies. For the future the ERN aims to increase the teaching initiatives either through teaching courses, e-learning activities or supporting the networking of young professionals.
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