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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The main ambition of the ERN BOND is to implement measures that facilitate multidisciplinary, holistic, continuous, patient-centred and participative care provision to people living with rare bone diseases (RBD), supporting them in the full realisation of their fundamental human rights. In particular, ERN BOND aim to ensure that people living with a RBD are afforded the same standards of care and support as the ones available to other citizens with similar requirements. To meet this goal, ERN BOND gathers European professionals highly specialized in the field of RBD for both scientific research and multidisciplinary care to increase knowledge on RDs, to improve healthcare quality and patient safety, to increase access to ultra specialized medical expertise and accessible information beyond national borders, in accordance with Directive 2011/24/EU.
ERN BOND aspiration is to support patients affected by rare bone diseases and their families, to increase their capacity to undertake a participative role in care provision, to set priorities and to participate in decisions regarding their care plan and their life project, in accordance with EUCERD recommendations (2013).

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The main ambition of the ERN BOND is to implement measures that facilitate multidisciplinary, holistic, continuous, patient-centred and participative care provision to people living with rare bone diseases (RBD), supporting them in the full realisation of their fundamental human rights. To meet this goal, BOND gathers European professionals highly specialized in the field of RBD for both scientific research and multidisciplinary care to increase knowledge on RDs, to improve healthcare quality and patient safety, to increase access to ultra specialized medical expertise and accessible information beyond national borders. ERN BOND aspiration is to support patients affected by RBD and their families, to increase their capacity to undertake a participative role in care provision, to set priorities and to participate in decisions regarding their care plan and their life project. BOND will bring rapid interchange of information, skills and practice to shorten time to diagnosis, and treatment, in collaboration with Patients Representatives (ePAGs). Efforts to target less developed affiliate partners, where the gap between existing provision and that aspired to through BOND is largest, will be carried, meeting the target of improving healthcare in ALL Members States.
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The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone) aims to realise improved, harmonised healthcare for people living with rare bone and mineral conditions (RBMCs) across Europe. Our focus includes over 150 severe rare bone diseases that affect cartilage, bones and dentin and more than 40 severe rare diseases affecting phosphate and calcium metabolism. In this project, we will establish the first pan-European registry in RBMCs.

RBMCs constitute a complex group of diseases with evident need for better and more harmonised care. The lack of natural history data is significant, and the quality of care and expertise varies across regions and in many countries is still unclear. Depending on first symptoms and local healthcare processes, a wide variety of healthcare specialists can be involved in the process. Until recently, there was limited cross-disciplinary alignment: each discipline had its own network, conference, guidelines and even registries. The European Reference Network on Bone Disorders (ERN BOND) has taken the lead to better organise the field, to harmonise and improve RBMCs healthcare.
Specifically, in this project, a core group of ERN BOND healthcare providers, affiliated centres and experts will:

• Establish a centralised registry for RBMCs within the scope of ERN BOND in collaboration with the already established European Registry for Rare Endocrine Conditions, EuRRECa, covering a core longitudinal minimal data set to capture their natural history from both clinician and patient perspectives.
• Establish four disease specific modules on Fibrous Dysplasia/McCune Albright syndrome (FD/MAS), Osteogenesis Imperfecta (OI), Rare Hypophosphatemia and Achondroplasia (ACHO), that capture genetic, clinical and patient related outcome measures in a scalable manner to other RBMCs.
• Provide a platform that enables detailed local, disease-specific registries on rare bone and mineral disorders to connect to EuRR-Bone.


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ERNICA - European Reference Network on rare Inherited and Congenital Anomalies (ICAs) aims at improving quality and safety and access to highly specialized healthcare for patients with ICAs including rare-gastrointestinal diseases. These diseases have low and extremely low incidence, for this reason pooling the available resources at European level is a necessity to spur advancements in care and treatment. It is for this reason that our vision is to provide to all European patients, regardless of their origin or economic situation, the best multidisciplinary initial care. ERNICA is set up as a relatively small European Reference Network, bringing together 20 Healthcare Providers from 10 Member States, that aims to grow expertise in the area of prenatal health and in countries where there is a lack of knowledge and expertise.
Motivated by the spirit of bringing in expertise from different specialties and stakeholder groups, ERNICA provides a holistic approach to care for patients with rare inherited and congenital anomalies and support for their families. This takes into account the physical, emotional, social, economic, and spiritual needs of patients and their families, as well as the changing needs throughout the life-cycle. Our work is based on the strategic partnership between healthcare professionals and patient representatives involved in ERNICA that will inform all activities undertaken by the Network. The Multiannual Plan will be focused on the following objectives: 1) understanding the existing resources in the area of diagnostic and treatment, 2) improving the use of common epidemiological tools, 3) identifying the current gaps in the provision of crossborder care and e-services, 4) assessing the educational needs of patients and healthcare professionals, and 5) developing the research agenda on ICAs to address the current gaps. The attainment of these objectives will facilitate access to quality and cost-effective care and reduce inequalities in Europe.
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