Clinical and Multi-omics Cross-phenotyping of Patients With Autoimmune and Auto-inflammatory Diseases
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Healthy Volunteer
- Sponsor
- Assistance Publique - Hôpitaux de Paris
- Enrollment
- 537
- Locations
- 2
- Primary Endpoint
- Microbiote species identification expressed as the % of species per family and genus
- Status
- Completed
- Last Updated
- 2 years ago
Overview
Brief 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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Presenting either:
- •one IAD from our list (Rheumatoid Arthritis, Ankylosing Spondylitis, Systemic Lupus Erythematosus/Antiphospholipid Syndrome, FMF, Cryopyrin-Associated Periodic Syndromes (CAPS)/Tumor Necrosis Factor (TNF)-receptor Associated Periodic Syndrome, Vasculitis, Uveitis, Myositis, Crohn's Disease, Ulcerative colitis, Type 1 Diabetes)
- •or an unclassified IAD : a knee and/or hip arthritis or a muscular dystrophy
- •or healthy subject
- •Good veins
- •Affiliation to a social security system
- •Informed consent form, signed by the participant and the investigator, prior all needed examination
Exclusion Criteria
- •For IADs patients
- •Unauthorized treatment (anticancer chemotherapy)
- •For Healthy volunteers
- •Contra-indications for donating blood except from age
- •Known history of IAD (eg: Psoriasis)
- •Common exclusion criteria:
- •Pregnant woman
- •Still under the exclusion period from another biomedical study
- •Psychiatric or addiction pathology who could interfere with the ability to fulfill the protocol needs or to provide an informed consent
- •Patient under a legal protection
Outcomes
Primary Outcomes
Microbiote species identification expressed as the % of species per family and genus
Time Frame: at day 0, no follow-up
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Tregs and Tconvs T cell receptor repertoire, expressed as the % of unique TCR sequences
Time Frame: at day 0, no follow-up
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Total peripheral blood gene expression between patients, expressed as fluorescence intensity
Time Frame: at day 0, no follow-up
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Cytokines and chemokines expressed as fluorescence intensity
Time Frame: at day 0, no follow-up
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
HLA type and SNPs expressed as the occurrence events across patients
Time Frame: at day 0, no follow-up
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Immune cells phenotyping expressed as the each cell type % within total PBMCs
Time Frame: at day 0, no follow-up
Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach
Secondary Outcomes
- Identification of specific and common microbiote composition between patients - between Disease cohorts(at day 0, no follow-up)
- Characterization of specific and common HLA and SNP profiles in patients - between Disease cohorts(at day 0, no follow-up)
- Characterization specific and common variations in immune cells frequencies between patients - between Disease cohorts(at day 0, no follow-up)
- Changes in Tregs and Tconvs TCR sequence frequencies between patients and healthy controls - for each Disease cohorts(at day 0, no follow-up)
- Characterization of HLA and SNP profiles in patients and healthy controls - for each Disease cohorts(at day 0, no follow-up)
- Changes in gene expression intensity between patients and healthy controls - for each Disease cohorts(at day 0, no follow-up)
- Changes in Microbiote composition between patients and healthy controls - for each Disease cohorts(at day 0, no follow-up)
- Changes in immune cells frequencies between patients and healthy controls - for each Disease cohorts(at day 0, no follow-up)
- Changes in cytokines and chemokines expression levels between patients and healthy controls - for each Disease cohorts(at day 0, no follow-up)
- Identification of specific and common gene expression levels between patients - between Disease cohorts(at day 0, no follow-up)
- Identification of specific and common Tregs and Tconvs TCR sequence frequencies between patients - between Disease cohorts(at day 0, no follow-up)
- Identification of specific and common cytokines and chemokines expression levels between patients - between Disease cohorts(at day 0, no follow-up)