Natural course, pathophysiology, models for early .. (EUROTRAPS)
Natural course, pathophysiology, models for early diagnosis, prevention and innovative treatment of TNF Receptor Associated Periodic Syndrome TRAPS with application for all hereditary recurrent fevers
Date du début: 1 avr. 2008,
Date de fin: 30 sept. 2011
The TNF Receptor Associated Syndrome (TRAPS) is a rare disease of innate immunity, caused by mutations in TNFR1. It is characterised by recurrent bouts of fever and pain and mainly affects patients of European ancestry. The development of renal amyloidosis in up to 20% of cases makes it a potentially fatal disease. Corticosteroids and anti-TNF therapeutics have not been consistently effective in controlling attacks and preventing amyloidosis. EUROTRAPS is a multidisciplinary consortium, which by combining ideas, resources, and data from 7 academic participants and 2 SMEs from 6 countries, aims to gain insights into the natural course and pathophysiology of TRAPS, particularly in children. The creation of a European registry for TRAPS patients will facilitate the delineation of scores and outcome measures for diagnosis and treatment. We will examine additional pathways and genes involved in the phenotype. Kit assays will be developed to facilitate identification of disease mutations and susceptibility factors for amyloidosis and resistance to treatment. TNFR1 signalling, apoptosis and IL1 secretion abnormalities associated with TRAPS will be studied. We will also develop in vitro and humanised animal models to investigate innovative therapies. We expect that future developments in TRAPS will impact on all aspects of hereditary paediatric fevers, and thereby improve the wellbeing of patients and their families. A dedicated bipartite committee will undertake the complex task of managing this ambitious project, create a secure intranet, organise regular meetings, issue progress reports, oversee ethical, legal, financial, and gender issues (over 50% of the participants are female), adjust the workplan at each milestone, and guarantee dissemination, exploitation and protection of scientific information. The requested funding will cover salaries (over 200 person/months newly generated employments), equipment acquisition, consumables, and dissemination of knowledge.
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