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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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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This is the VASCERN Specific Grant Agreement for Year 3 to Year 5 under the Framework Partnership Agreement. 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 will enable VASCERN to carry on with its work and reinforce its activities with
regard to various Work Packages detailed in this project proposal.
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Rare diseases (RD) have been identified as one of the paradigmatic fields in which actions conducted at the European level constitute the adequate response to their specific problems: poor recognition leading to diagnostic delay and inappropriate management including adapted social services, poor health outcomes, social burden, limited knowledge on natural history and pathophysiology leading to an insufficient development of new therapies. The low prevalence and the specificity of RD make that a global, multi-stakeholder approach, intended to gather specific expertise and to build shared strategies is necessary to address these issues.
The general objectives of RD-Action are to:
▪ Support the further development and sustainability of the Orphanet database, the biggest global repository of information on RD
▪ Contribute to solutions to ensure an appropriate codification of RD in health information systems
▪ Continue implementation of the priorities identified in Council Recommendation 2009/C151/02 and the Commission Communication (COM 2008 679) on RD, with a view to ensuring the sustainability of the recommended priority actions and to support the work of the Commission Expert Group on Rare Diseases (CEGRD).
This JA will expand and consolidate the achievements of the former JAs on RD supported by the European Commission: the Orphanet JA and the EUCERD JA. More precisely, this proposal has the ambition to help member states to implement the recommended measures adopted or to be adopted by the CEGRD and to produce the data necessary for countries to do so. Interactions between the production of data at the Orphanet database level and the implementation of policy priorities including codification will be strengthened during this JA.RD-Action large geographical coverage is key to success as it will promote the transfer of European recommendations into national policies and the collection of information and concerns from MS to the CEGRD, thus to the European Commission.

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Rare diseases (RD) have been considered a challenge for Europe, for they have been identified as one of the paradigmatic fields in which actions conducted at the European level constitute the adequate response to their specific problems: poor recognition leading to diagnostic delay and inappropriate management including adapted social services, poor health outcomes, social burden, limited knowledge on natural history and pathophysiology leading to an insufficient development of new therapies. Amongst the key actions the European Commission (EC) has contributed to develop so far in order to address key priorities in the field of RD there is Orphanet, a European Knowledge base dedicated to RD and orphan drugs, accessible from the portal www.orpha.net, and providing re-usable data through the platform www.orphadata.org. Orphanet has also be recognised, by the EC , as having a de facto monopoly in its field. The objectives of the project are:
1. To provide the RD community with interoperability tools, in particular around an inventory of RD, to allow for semantic interoperability between countries and between domains (health, research)
2. To provide high-quality information on RD, in particular through an encyclopedia in several languages,
3. To provide a directory of expert services in order to help patients, physicians and stakeholders finding the expertise on a particular disease in Europe and beyond, and to produce data needed to support policy actions.
4. To further develop and sustain Orphanet as the reference knowledge base on RD, by establishing and consolidating collaboration within the Orphanet pan-European network and with European Reference Networks (ERNs) for the production, improvement and dissemination of knowledge on rare diseases. It will allow for the creation of a consistent expertise ecosystem for rare diseases in Europe.
The overall outcome is the consolidation of Orphanet as the reference source of information on RD for European citizens.

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