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.
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Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
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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.


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Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
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ERN-LUNG is a network of European patients and healthcare providers dedicated to ensuring and promoting excellence in care and research to the benefit of patients affected by rare respiratory diseases. ERN-LUNG’s vision is to be a European knowledge hub for rare respiratory diseases and to decrease morbidity and mortality from rare respiratory diseases in people of all ages. ERN-LUNG is a European Reference Network (ERN), a non-profit, international, professional, patient centred network.
ERN-LUNG is focused on rare respiratory diseases and is made up of nine core networks representing the diversity of diseases and conditions affecting the lungs. The current core networks (sub-thematic areas) are interstitial lung diseases, cystic fibrosis, pulmonary hypertension, primary ciliary dyskinesia, non-CF bronchiectasis, alpha1-antitrypsin deficiency,
mesothelioma, chronic lung allograft dysfunction, and other rare lung diseases (e.g. respiratory malformations, Ondine syndrome). In addition to the sub-thematic groups, ERN-LUNG is also organized in functional committees tackling horizontal topics, affecting all of the current and future core networks of ERN-LUNG. These functional committees are Research and Clinical Trials, Ethical Issues, Registries and Biobanks, Patient Recorded Outcomes and Quality of Life, Quality Management, Guidelines and Best Practice of Care, Communication and Outreach, Cross Border Care, and Professional Training and Continued Medical Education.
In building up on and learning from mature networks of recognized international excellence, ERN-LUNG will add value for patients, healthcare providers, and professionals through dissemination of knowledge, enhancement of general expertise by learning from the best centres in rare respiratory diseases in Europe, and improvement of standards of care, quality of life and prognosis for the whole spectrum of rare pulmonary diseases.
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Topic: 4.1 Support the establishment of a system of European reference networks for patients with conditions requiring highly specialised care and a particular concentration of resources or expertise, as in the case of rare diseases, on the basis of criteria to be established under Directive 2011/24/EU.
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