Diagnosis / Projects

3rd Health Programme (2014-2020)
EUROPEAN REFERENCE NETWORK ON HEREDITARY METABOLIC DISEASES [MetabERN]
The European Reference Network for rare Hereditary Metabolic Diseases (MetabERN) aims to facilitate access to the best available care and address the needs across the border of all patients affected b...
The European Reference Network for rare Hereditary Metabolic Diseases (MetabERN) 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 (IMDs) and their families. It is unprecedented that a pan-EU Network covers expertise encompassing all the IMDs (over 700) regardless of their incidence and prevalence, severity, availability of treatment and characteristics of patient population. 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. In this spirit, family associations (FAs) 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. World-known experts will work hand-in-hand with FAs to develop guidelines for accurate diagnosis and optimal management of IMDs in order to strengthen referral systems across the border. MetabERN will facilitate access to treatment by channeling expertise through virtual and web-based platforms to minimize patient mobility. MetabERN will serve as a hub of knowledge and information by connecting the most relevant scientific associations and EU established networks in this area. A structured collaboration is activated with other European Reference Networks with overlapping disease areas to ensure that patients receive the best available care. Knowledge of IMDs will increase among target groups, mainly Healthcare Professionals, Patients and Researchers, thanks to the tailored training activities that will be developed after a thorough check of their needs. Early uptake of medical advances will be bolstered by developing recommendations to overcome the barriers to translational research. Our focus on safety and cost-effective treatments will drive the future IMD research agenda for the next 10 years.
Start date: 01/03/2017 - End date: 28/02/2018

Call: EUROPEAN REFERENCE NETWORKS SPECIFIC GRANT AGREEMENTS COVERING YEAR 2017
Topic: Diagnosis
3rd Health Programme (2014-2020)
ERN RITA: European Reference Network on Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases: Year 2 Workplan [ERN RITA SGA Yr2]
ERN-RITA brings together the leading European centres with expertise in diagnosis and treatment of rare primary immunodeficiency, autoimmune and autoinflammatory disorders, setting the stage for high ...
ERN-RITA brings together the leading European centres with expertise in diagnosis and treatment of rare primary immunodeficiency, autoimmune and autoinflammatory disorders, setting the stage for high standards of clinical care throughout Europe enabling centres of excellence to drive forward this pan-European initiative. Our network combines concerted efforts to improve patient care across Europe, and in particular enables patients in less well served countries to have access to the same high standards of care. Rare immunological disorders are life-threatening conditions requiring multidisciplinary care using complex diagnostic evaluation and highly specialised cutting edge therapies. The constituent groups brought together in RITA provide an exemplar of what has and can be achieved with rare diseases over time. Our groups from across Europe have already clearly demonstrated the ability to work together for the benefit of patients by constructing registries, surveying treatments and outcomes, conducting clinical research and devising guidelines for best practice which have been shown to improve outcomes. With the creation of our network we provide an opportunity for these excellent initiatives to be shared equitably all over Europe, as RITA will harmonize diagnostic and therapeutic guidelines and thus provide a common shared medical platform for all affected patients, independent of national and ethnic origins. The RITA network aims at harmonizing diagnostic and therapeutic guidelines for all affected patients, independent of national and ethnic origins, resulting in access to diagnostic tests and therapies such as biologic therapies, Immunoglobulin replacement, stem cell transplantation, and gene therapy. RITA members believe that, by improving understanding and awareness, diagnosis of these diseases, facilitating advances in treatment and educating physicians about these diseases, will ensure that every patient will benefit from clinical and scientific knowledge.
Start date: 01/03/2018 - End date: 28/02/2019

Call: EUROPEAN REFERENCE NETWORKS SPECIFIC GRANT AGREEMENTS COVERING YEAR 2018
Topic: Diagnosis
3rd Health Programme (2014-2020)
FRAILTOOLS: A comprehensive validation of tools to screen and diagnose frailty in different clinical and social settings to provide instruments for integrated care in older adults [FRAILTOOLS]
There is a proved strong evidence of the usefulness of frailty as a predictive factor of relevant undesired outcomes in populations of older adults. Several studies have been published showing the uti...
There is a proved strong evidence of the usefulness of frailty as a predictive factor of relevant undesired outcomes in populations of older adults. Several studies have been published showing the utility of the concept in improving the prognostic accuracy and the prediction of different risks (hospitalization, surgical and non-surgical complications, length of stay, death, incident disability, etc) in emergency departments, cardiac surgery, surgical patients and in patients with cardiovascular disease. These studies have placed the focus in assessing population risk, while the validation process for these instruments as diagnostic or screening tools has been usually neglected.FRAILTOOLS aims to assess the usefulness as screening and diagnosis tools of some selected instruments to detect frailty in both clinical (Hospital and Primary Care) and social (nursing homes) settings, providing diagnostic algorithms clinically sound. Target groups are all of those older adults at risk for frailty (pre-frail) plus those that are frail and are at risk for developing disability. According to the published prevalence of these two conditions, the target population concerned by this project represent around 40-50% of older people older than 65 and 60-70% of people older than 75. Once determined the best tools of screening and diagnosis in different settings of care, we will reach conclusions for this people wherever the level of care they need and currently use. The benefit will expand to the Health Systems and Social Care as it will provide validated instruments that are necessary to provide an appropriate care for older adults by means of a comprehensive, continued, coordinated and integrated care.FRAILTOOLS consortium involves 6 of the most renowned partners in research on ageing and frailty from Spain, UK, Italy, France and Poland, plus the support of a number of highly relevant collaborating stakeholders fully committed with the project.
Start date: 01/05/2015 - End date: 31/12/2018

Call: Call for Proposals for Projects 2014
Topic: Diagnosis