IEDAT Horizon2020 Project: Final Event
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The main objective of the IEDAT project is to provide a treatment of the neurological symptoms of patients with Ataxia Telangiectasia (AT), a rare progressively disabling and life-shortening genetic disease for which no therapy is currently available. To achieve this, the IEDAT Project has developped solutions, which will be presented during this Final Event, to conclude the project.
► The AT NEST, the first scale to assess symptoms specific to AT patients, coordinated by the AT centre at the John’s Hopkins University, has been tested in parallel to the study and represents the 1st scale with the scope of assessing main areas of impairment specific to AT.
► MiniATM expression as biomarker. Ataxia telangiectasia (AT) results from biallelic mutations in the ataxia telangiectasia-mutated (ATM) gene. Recently, an effect of dexamethasone on the partial function recovery of the mutated gene, with the production of new ATM protein variant (miniATM) that retains partial enzymatic activity, has been demonstrated. This may explain in part the beneficial effect of EryDex on neurological symptoms of AT. In parallel to the clinical trial, investigations into the molecular mechanisms of action of EryDex has been performed with the objective to provide the validation of a new MiniATM biomarker predictive of treatment efficacy.
Johns Hopkins University
Chaim Sheba Medical Center
University of Urbino