Clinical and multi-omics cross-phenotyping of patients with autoimmune and autoinflammatory diseases: the observational TRANSIMMUNOM protocol

Roberta Lorenzon 1 Encarnita Mariotti-Ferrandiz 2 Caroline Aheng Claire Ribet 3 Férial Toumi 4 Fabien Pitoiset 2 Wahiba Chaara 2 Nicolas Derian 2 Catherine Johanet 5 Iannis Drakos Sophie Harris Serge Amselem 6 Francis Berenbaum 7 Olivier Benveniste 8 Bahram Bodaghi 9 Patrice Cacoub 10 Gilles Grateau 11 Chloé Amouyal 12 Agnes Hartemann 13 David Saadoun 14 Jérémie Sellam 15 Philippe Seksik 16 Harry Sokol 17 Joe-Elie Salem 18 Eric Vicaut 19 Adrien Six 2 Michelle Rosenzwajg 14 Claude Bernard 20 David Klatzmann 2
Abstract : INTRODUCTION: Autoimmune and autoinflammatory diseases (AIDs) represent a socioeconomic burden as the second cause of chronic illness in Western countries. In this context, the TRANSIMMUNOM clinical protocol is designed to revisit the nosology of AIDs by combining basic, clinical and information sciences. Based on classical and systems biology analyses, it aims to uncover important phenotypes that cut across diagnostic groups so as to discover biomarkers and identify novel therapeutic targets. METHODS AND ANALYSIS: TRANSIMMUNOM is an observational clinical protocol that aims to cross-phenotype a set of 19 AIDs, six related control diseases and healthy volunteers . We assembled a multidisciplinary cohort management team tasked with (1) selecting informative biological (routine and omics type) and clinical parameters to be captured, (2) standardising the sample collection and shipment circuit, (3) selecting omics technologies and benchmarking omics data providers, (4) designing and implementing a multidisease electronic case report form and an omics database and (5) implementing supervised and unsupervised data analyses. ETHICS AND DISSEMINATION: The study was approved by the institutional review board of Pitié-Salpêtrière Hospital (ethics committee Ile-De-France 48-15) and done in accordance with the Declaration of Helsinki and good clinical practice. Written informed consent is obtained from all participants before enrolment in the study. TRANSIMMUNOM's project website provides information about the protocol (https://www.transimmunom.fr/en/) including experimental set-up and tool developments. Results will be disseminated during annual scientific committees appraising the project progresses and at national and international scientific conferences. DISCUSSION: Systems biology approaches are increasingly implemented in human pathophysiology research. The TRANSIMMUNOM study applies such approach to the pathophysiology of AIDs. We believe that this translational systems immunology approach has the potential to provide breakthrough discoveries for better understanding and treatment of AIDs.
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Roberta Lorenzon, Encarnita Mariotti-Ferrandiz, Caroline Aheng, Claire Ribet, Férial Toumi, et al.. Clinical and multi-omics cross-phenotyping of patients with autoimmune and autoinflammatory diseases: the observational TRANSIMMUNOM protocol. BMJ Open, BMJ Publishing Group, 2018, 8 (8), pp.e021037. ⟨10.1136/bmjopen-2017-021037⟩. ⟨inserm-01978798⟩

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