Rare connective tissue and musculoskeletal diseases (rCTDs) comprise a large number of diseases and syndromes including hereditary conditions (Ehlers Danlos, Marfan), rare systemic autoimmune diseases (systemic sclerosis, mixed connective tissue diseases, inflammatory idiopathic myopathies undifferentiated connective tissue diseases, anti-phospholipid syndrome) and other systemic autoimmune diseases characterized by a complex clinical picture (systemic lupus erythematosus, Sj�gren syndrome). rCTDs have a major impact on patients and society because of their burden of morbidity and mortality.
Specific goals of the ReCONNET network activities are (i) to increase empowerment and engagement of patients in the management of their disease; (ii) to improve and acquire new knowledge on these conditions; (iii) to develop care and quality guidelines to deliver to patients a high quality and homogeneous care; (iv) to identify standard, cost-effective and sustainable pathways for the management of rCTDs; (v) to facilitate data sharing and circulation of patients and health care professionals across borders.
All these activities will be facilitated by the co-design of e-toolkits and the active involvement of different professional expertise. The Network will improve care processes by increasing knowledge and communication between healthcare providers, patients and families, sharing clinical experience allowing to fill the gaps in less experienced centres, identifying common pathways for diagnosis and monitoring, defining easy access to interdisciplinary care both locally and across borders, assessing cost-effectiveness and sustainability of interventions.
The network will support the empowerment and the engagement of the patient in care pathways and will enhance their role in terms of disease awareness and co-management, ability to control the consequences of the disease and improve quality of life,clinical information collection and exchanging, interaction with HCPs.
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We propose a European Reference Network for the care of individuals with rare and complex epilepsies (<5 in 10,000) – EpiCARE. The successful pilot ERN E-pilepsy for epilepsy surgery (EU EAHC 534055, 2014) highlighted the need for a larger ERN dedicated to all aspects of rare and complex epilepsies; a group of >137 different diseases where epileptic seizures are the predominant feature, impacting on neurodevelopment, quality of life and mortality. Many more remain unrecognised. To fulfil the core criteria for expertise in this group of patients we have formed a network of 28 centres from 13 European countries. EpiCARE will draw on this expertise to facilitate the diagnosis, care and management of individuals with rare and complex epilepsies across Europe. The network will care for the epilepsies through all ages from birth to old age. This will be through the delivery of harmonised care across the EU utilising e-health, developed by a series of workpackages (core networks) optimising diagnosis through access to specialised laboratory diagnostics, neuroimaging review, neurophysiology, neuropsychology, and neuropathology and optimising therapeutics with targeted medical therapies, surgery, and dietary intervention. A series of sub networks will ensure the coordination and development of EpiCARE, with consolidation of patient registries specific to rare and complex epilepsies, and dissemination to stakeholders. Harmonisation of care will be promoted through structured collaboration between experts, the availability of guidelines, facilitation of education and training and close partnership with lay associations. Data will be collated to enable design of clinical trials, with common outcome data elements, and to address research priorities. EpiCARE will reduce the geographical inequalities and knowledge gap across Europe through utilisation of e-health and thus improve both the health outcomes and socio-economics associated with these patients.
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Rare cardiac diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease. GUARD-HEART will be a broad thematic ERN, encompassing all rare cardiac diseases,conditions and procedures with a unifying objective: ‘Excellence in diagnostics and treatment of rare cardiac diseases throughout life’. It will accommodate the intensity of clinical symptoms and pathology concerning arrythmias (electrical diseases), cardiomyopathies, congenital heart diseases and other rare cardiac diseases in both adults and children.

The mission of GUARD HEART is to facilitate access to highly specialised diagnosis and treatment of rare and complex heart diseases in both adult and paediatric patients across the European Union. GUARD HEART brings together, in its start-up phase, a geographically diverse group of 24 expert healthcare providers from 12 different Member States committed to patient-centred care, efficient practice based on evidence, knowledge sharing and education, and translational research. The initial focus will be on genetically transmitted heart disease and several specific procedures in paediatric patients. During the first year GUARD HEART will be open to other expert centres also with a focus on congenital heart disease and other (mainly non familial) rare cardiac diseases. By pooling knowledge and expertise, GUARD HEART aims to provide better, safer, more efficient healthcare to all European patients with rare and complex cardiac conditions on the basis of the best evidence and value available.
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