Rare Disease / Projects

3rd Health Programme (2014-2020)
Codification for Rare Diseases [RDCODE]
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 implemen...
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.
Start date: 01/01/2019 - End date: 31/12/2021

Call: Call for Proposals for Projects 2018
Topic: Rare Disease
3rd Health Programme (2014-2020)
ERN-ITHACA: A European Reference Network for Rare Intellectual Disability, TeleHealth and Syndromic Malformations [ERN-ITHACA]
ERN-ITHACA seeks to provide a patient centred network which will meet the needs of those with rare congenital malformation and intellectual disability syndromes , both diagnosed and undiagnosed. We w...
ERN-ITHACA seeks to provide a patient centred network which will meet the needs of those with rare congenital malformation and intellectual disability syndromes , both diagnosed and undiagnosed. We will provide an infrastructure for diagnosis, evidence-based management and collection of secure patient data. Working with patients, Members of the network will share best practice and disseminate guidlines to optimise and improve coordination of patient care. We will facilitate training, and capacity building in field, be active and collaborative researchers and work towards development of diagnostic tests and future therapies.
ERN-ITHACA will comprise initially of 38 partner centres from 14 different EU Member States, led from the Central Manchester University Hospitals NHS Trust. In partnership with professionals, and also represented on the Board, there will be patient and lay members. We will work together, using innovative approaches such as TeleHealth to improve lives for patients with rare malformations and Intellectual disability syndromes. Our work plan will be organised into discrete packages, each with professional and patient leads. The network will be led by a network coordinator and managed by a designated project manager who will also be involved in coordination, monitoring, and dissemination. The lead organisation will oversee financial management. The network will be governed by a Board who in turn will be assisted by an independent steering group . We will include other centres as associates, working with them so that they can become affiliate centres in due course. In this way we will add value to the policies of Member States aiming to improve people’s health, reduce health inequalities, encourage innovation in healthcare, increase the sustainability of healthcare systems and protect EU citizens from serious cross-border health threats.
Start date: 01/03/2017 - End date: 28/02/2018

Call: EUROPEAN REFERENCE NETWORKS SPECIFIC GRANT AGREEMENTS COVERING YEAR 2017
Topic: Rare Disease
3rd Health Programme (2014-2020)
EUROPEAN REFERENCE NETWORK ON BONE RARE DISEASES [ERN BOND]
The ERN BOND brings together all rare diseases, essentially congenital, chronic and of genetic origin, that affect cartilage, bones and dentin. This considerable group of diseases present a significan...
The ERN BOND brings together all rare diseases, essentially congenital, chronic and of genetic origin, that affect cartilage, bones and dentin. This considerable group of diseases present a significant variation in clinical outcomes and limited research program are currently available to clarify their physiopathological bases.
This large field may be shared in two main categories, skeletal dysplasia and metabolic bone diseases. These 2 categories themselves are subdivided in several thematic and sub thematic groups.
The impossibility to consider all these diseases led our group to choose 11 main thematic groups, and, among these groups, to emphasize 3 major diseases that will be prioritized, serving as a starter/template for the 2 first years: Achondroplasia, Osteogenesis Imperfecta and X-linked hypophosphatemia. The rationale for choosing these leading diseases is based on 5 central arguments: 1/ disease frequency 2/ gravity of some devastating disorders, requiring an urgent improvement in early diagnosis and management 3/ difficulty and complexity of the diagnosis, requiring a dissemination of the diagnostic expertise and modern tools; 4/ difficulty and complexity in the treatment and management art, requiring also to ensure a better diffusion of symptomatic treatment or surgical techniques ; 5/ current emergence of new drugs from basic research through translational research, or through biopharmaceutics research and development collaborations. Although prioritization of some diseases is mandatory for the implementation of BOND, it will of course be important to keep a larger view, and progressively to open the field to other ultrarare/“forgotten” other bone diseases ERN. BOND will establish European specific pathways, research programmers, and specific outcomes for patients in order to realize a European Health System.


Start date: 01/03/2017 - End date: 28/02/2018

Call: EUROPEAN REFERENCE NETWORKS SPECIFIC GRANT AGREEMENTS COVERING YEAR 2017
Topic: Rare Disease
3rd Health Programme (2014-2020)
EUROPEAN REFERENCE NETWORK ON HEREDITARY METABOLIC DISEASES [SGA year 2]
The MetabERN is the first pan-european pan-metabolic network formed by 69 HCPs in 18 EU countries taking care, by now, of about 43000 patients and coupling the efforts of over 1700 multidisciplinary p...
The MetabERN is the first pan-european pan-metabolic network formed by 69 HCPs in 18 EU countries taking care, by now, of about 43000 patients and coupling the efforts of over 1700 multidisciplinary professionals. It aims to facilitate access to the best available care and address the needs across the border of all patients affected by rare inherited metabolic diseases and their families. The 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 independently from their kind and severity of any of the 700 described metabolic disorders. Patients Organisation (POs) 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. During the first year the MetabERN has been structured and organized. 7 Subnetworks of homogeneous diseases were created and 8 WPs for common activities rangings from prevention to clinical trials. Furthermore, a first patients is under discussion using the Clinical Patient Management Systems Platform (CPMS) provided by the EC. In line with the objectives and services defined in the FPA proposal, the second-year plan of activities of MetabERN focuses on: a) the optimisation of the clinical potential of MetabERN by the use of the Clinical Patient Management System Platform (CPMS); b) initiation of research activities in the metabolic field and identification of relevant partners for the development and implementation of these activities; c) the roll out of a development matrix and evaluation tools for guidelines and clinical pathways; d) the mapping of training needs for both patients and professionals in preparation of teaching and education programmes within the network in later years; e) the continued and targeted dissemination of information about the network to increase awareness in the relevant communities.
Start date: 01/03/2018 - End date: 28/02/2019

Call: EUROPEAN REFERENCE NETWORKS SPECIFIC GRANT AGREEMENTS COVERING YEAR 2018
Topic: Rare Disease
3rd Health Programme (2014-2020)
RD REGISTRY DATA WAREHOUSE [REGISTRY WAREHOUSE]
Patient registries and databases are key instruments to support clinical research in the field of rare diseases, to improve patient care and aide healthcare planning. The effort needed to gather regis...
Patient registries and databases are key instruments to support clinical research in the field of rare diseases, to improve patient care and aide healthcare planning. The effort needed to gather registry data is enormous and yet worthwhile since they are the basis for the observation of the natural course of a disease, for planning and for doing feasibility checks of clinical trials. A widely unknown number of RD registries existed, still exist or are in the process of being set up. So far, data exchange is a problem, not foreseen in most registries and cross-border interoperability is not provided. The small number of patients affected by rare diseases make registries even more important than in the normal population or in common diseases as they enable cross-border gathering of data to achieve sufficient sample size for any purpose in clinical research and or public health issues.
Patient and care team members of ERN-LUNG have deducted that the excellent pre-existing registries within ERN-LUNG could give a strong basis for a NEW Registry Warehouse enabling full data exchange and cross-border interoperability. This Rare Disease (RD) REGISTRY DATA WAREHOUSE will be a combination of existing registries, new registries or new registry elements that are brought together with full interoperability. To develop this RD REGISTRY DATA WAREHOUSE we build upon our experience with registries established and coordinated by the applicants (starting with CF, PCD and non-CF BE), existing software solutions (Open Source registry framework OSSE) developed and/or used for RD registries by the applicants and leadership in defining minimum data sets and compliance to data quality standards such as EUCERD Recommendations on RD registries, a project led by the coordinator.
This RD REGISTRY DATA WAREHOUSE will not only improve data management and research in rare lung diseases, but will serve as a blueprint to connect patient registries and databases linked to other rare diseases.

Start date: 01/04/2018 - End date: 30/11/2021

Call: Rare diseases - support for New Registries
Topic: Rare Disease