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BMJ Open. 2018 Aug 30;8(8):e021037. doi: 10.1136/bmjopen-2017-021037.

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

Author information

1
Immunology, Immunopathology, Immunotherapy (i3), Sorbonne Université, INSERM, Paris, France.
2
Biotherapy (CIC-BTi) and Inflammation, Immunopathology, Biotherapy Department (i2B), Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
3
Immunology Department, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
4
UFR 967, Sorbonne Université, Paris, France.
5
Laboratoire de génétique, UMR S933, Sorbonne Université, INSERM, Paris, France.
6
Rheumatology Department, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
7
UMR S938, Sorbonne Université, INSERM, Paris, France.
8
Internal Medicine and Clinical Immunology Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
9
UMR 974, Sorbonne Université, Paris, France.
10
Département Hospitalo-Universitaire Vision and Handicaps 'ViewMaintain', Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, Île-de-France, France.
11
Internal Medicine Department, Tenon Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
12
UMR S933, Sorbonne Université, INSERM, Paris, France.
13
Diabetology Department, Institute of Cardiometabolism and Nutrition (ICAN), Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, Île-de-France, France.
14
Gastroenterology Department, Saint-Antoine Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
15
GRC-UPMC 03, Sorbonne Université, Paris, France.
16
CIC-1421, Pharmacology Department, INSERM, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
17
Unité de recherche clinique, UMR 942, Saint-Louis Lariboisière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
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Contributed equally

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.

TRIAL REGISTRATION NUMBER:

NCT02466217; Pre-results.

KEYWORDS:

autoimmunity; data integration; inflammation; multidisciplinarity

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