NCT02466217

Phenomics in Autoimmune and Inflammatory Diseases

Clinical and Multi-omics Cross-phenotyping of Patients With Autoimmune and Auto-inflammatory Diseases

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 537 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

The family of inflammatory/autoimmune systemic diseases (IAD) form a continuum from pure inflammatory diseases to pure autoimmune diseases, encompassing a large panel of inflammatory diseases with some autoimmune components, and vice versa. Cross phenotyping of patients with IAD should be heuristic and help revise the nosography and the understanding of these diseases.

Detailed description

The family of inflammatory/autoimmune systemic diseases (IAD) represents a large group of human diseases. For most if not all of these IAD, the pathophysiological processes or exact causes remain poorly understood. Progresses in molecular understanding of these IAD have led to realize that these are not two distinct categories of diseases. Rather they form a continuum from pure inflammatory diseases to pure autoimmune diseases, encompassing a large panel of inflammatory diseases with some autoimmune components, and vice versa. Using systems biology, the investigator aims to improve the understanding of these diseases, to identify novel genes/pathways involved, specific or across the diseases, and to discover biomarkers and potential therapeutic targets. The investigator will study adult patients with at least one of the following IAD: Rheumatoid Arthritis, Ankylosing Spondylitis, Systemic Lupus Erythematosus/Antiphospholipid Syndrome, Familial Mediterranean Fever (FMF), Cryopyrin-Associated Periodic Syndromes (CAPS) /Tumor Necrosis Factor-receptor Associated Periodic Syndrome (TRAPS), Vasculitis, Uveitis, Myositis, Crohn's Disease, Ulcerative colitis, Type 1 Diabetes. This panel will be completed by controls groups: healthy volunteers, and patients with arthritis (knee and/or hip) or muscular dystrophy. The biological investigations will notably comprise: immunomics (comprehensive evaluation of peripheral blood cell subsets and serum immunoproteomics, including autoantibodies); transcriptomics; Human Leukocyte Antigen (HLA)-phenotyping; genomics; T-Cell Receptor (TCR) sequencing and microbiota studies. After signing the informed consent, the subject attends only one visit (Day 0) during which all biological samples will be taken and all clinical information collected.

Conditions

• Healthy Volunteer
• Rheumatoid Arthritis
• Ankylosing Spondylitis
• Systemic Lupus Erythematosus/Antiphospholipid Syndrome
• FMF
• Cryopyrin-Associated Periodic Syndromes /TNF-receptor Associated Periodic Syndrome
• Vasculitis
• Uveitis
• Myositis
• Crohn's Disease
• Ulcerative Rectocolitis
• Type 1 Diabetes
• Unclassified IAD Knee and/or Hip Arthritis, Muscular Dystrophy

Interventions

Type	Name	Description
OTHER	1: AID groups	Clinical and Biological investigations
OTHER	2: Control groups	Clinical and Biological investigations

Timeline

• Start date: 2015-07-29
• Primary completion: 2022-07-14
• Completion: 2022-07-18
• First posted: 2015-06-09
• Last updated: 2023-08-08

Locations

2 sites across 1 country: France