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| ID | Type | Description | Link |
|---|---|---|---|
| 2015-A00558-41 | Other Identifier | EUDRACT |
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| Name | Class |
|---|---|
| National Research Agency, France | OTHER |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 1: AID groups | Rheumatoid Arthritis, Ankylosing Spondylitis, Systemic Lupus Erythematosus/Antiphospholipid Syndrome, FMF, Cryopyrin-Associated Periodic Syndromes (CAPS)/TNF-receptor Associated Periodic Syndrome (TRAPS), Vasculitis, Uveitis, Myositis, Crohn's Disease, Ulcerative colitis, Type 1 Diabetes |
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| 2: Control groups | knee arthritis, hip arthritis, muscular dystrophy, healthy subject |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 1: AID groups | Other | Clinical and Biological investigations |
| |
| Measure | Description | Time Frame |
|---|---|---|
| Total peripheral blood gene expression between patients, expressed as fluorescence intensity | Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach | at day 0, no follow-up |
| Tregs and Tconvs T cell receptor repertoire, expressed as the % of unique TCR sequences | Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach | at day 0, no follow-up |
| HLA type and SNPs expressed as the occurrence events across patients | Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach | at day 0, no follow-up |
| Microbiote species identification expressed as the % of species per family and genus | Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach | at day 0, no follow-up |
| Cytokines and chemokines expressed as fluorescence intensity | Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach | at day 0, no follow-up |
| Immune cells phenotyping expressed as the each cell type % within total PBMCs | Identification of novel molecular and cellular pathways involved either in specific diseases or across the IAD continuum through a multiparametric approach |
| Measure | Description | Time Frame |
|---|---|---|
| Changes in gene expression intensity between patients and healthy controls - for each Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Changes in Tregs and Tconvs TCR sequence frequencies between patients and healthy controls - for each Disease cohorts |
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Inclusion Criteria:
Presenting either:
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
For Healthy volunteers
Common exclusion criteria:
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The investigator will study adult patients with at least one of the following IAD: Rheumatoid Arthritis, Ankylosing Spondylitis, Systemic Lupus Erythematosus/Antiphospholipid Syndrome, FMF, Cryopyrin-Associated Periodic Syndromes (CAPS)/TNF-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
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| Name | Affiliation | Role |
|---|---|---|
| David KLATZMANN, MD, PhD | Assistance Publique - Hôpitaux de Paris | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Rhumatologie - Hôpital Saint-Antoine | Paris | 75012 | France | |||
| CIC Paris-Est, Hôpital PITIE SALPETRIERE |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 41862407 | Derived | Ellul P, Tchitchek N, Kvedaraviciute G, Lorenzon R, Melki I, Delorme R, Rosenzwajg M, Klatzmann D. An immunometabolic signature of major depressive disorder in systemic lupus erythematosus. Ann Rheum Dis. 2026 Mar 19:S0003-4967(26)00134-2. doi: 10.1016/j.ard.2026.02.019. Online ahead of print. | |
| 38182406 | Derived |
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| 2: Control groups |
| Other |
Clinical and Biological investigations |
|
| at day 0, no follow-up |
Identification of new biomarkers and potential therapeutic by multiscale analysis |
| at day 0, no follow-up |
| Characterization of HLA and SNP profiles in patients and healthy controls - for each Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Changes in Microbiote composition between patients and healthy controls - for each Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Changes in cytokines and chemokines expression levels between patients and healthy controls - for each Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Changes in immune cells frequencies between patients and healthy controls - for each Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Identification of specific and common gene expression levels between patients - between Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Identification of specific and common Tregs and Tconvs TCR sequence frequencies between patients - between Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Characterization of specific and common HLA and SNP profiles in patients - between Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Identification of specific and common microbiote composition between patients - between Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Identification of specific and common cytokines and chemokines expression levels between patients - between Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Characterization specific and common variations in immune cells frequencies between patients - between Disease cohorts | Identification of new biomarkers and potential therapeutic by multiscale analysis | at day 0, no follow-up |
| Paris |
| 75013 |
| France |
| Tchitchek N, Binvignat M, Roux A, Pitoiset F, Dubois J, Marguerit G, Saadoun D, Cacoub P, Sellam J, Berenbaum F, Hartemann A, Amouyal C, Lorenzon R, Mariotti-Ferrandiz E, Rosenzwajg M, Klatzmann D. Deep immunophenotyping reveals that autoimmune and autoinflammatory disorders are spread along two immunological axes capturing disease inflammation levels and types. Ann Rheum Dis. 2024 Apr 11;83(5):638-650. doi: 10.1136/ard-2023-225179. |
| 30166293 | Derived | Lorenzon R, Mariotti-Ferrandiz E, Aheng C, Ribet C, Toumi F, Pitoiset F, Chaara W, Derian N, Johanet C, Drakos I, Harris S, Amselem S, Berenbaum F, Benveniste O, Bodaghi B, Cacoub P, Grateau G, Amouyal C, Hartemann A, Saadoun D, Sellam J, Seksik P, Sokol H, Salem JE, Vicaut E, Six A, Rosenzwajg M, Bernard C, Klatzmann D. Clinical and multi-omics cross-phenotyping of patients with autoimmune and autoinflammatory diseases: the observational TRANSIMMUNOM protocol. BMJ Open. 2018 Aug 30;8(8):e021037. doi: 10.1136/bmjopen-2017-021037. |
| ID | Term |
|---|---|
| D001172 | Arthritis, Rheumatoid |
| D013167 | Spondylitis, Ankylosing |
| D008180 | Lupus Erythematosus, Systemic |
| D016736 | Antiphospholipid Syndrome |
| D014657 | Vasculitis |
| D014605 | Uveitis |
| D009220 | Myositis |
| D003424 | Crohn Disease |
| D011350 | Proctocolitis |
| D003922 | Diabetes Mellitus, Type 1 |
| D009136 | Muscular Dystrophies |
| ID | Term |
|---|---|
| D001168 | Arthritis |
| D007592 | Joint Diseases |
| D009140 | Musculoskeletal Diseases |
| D012216 | Rheumatic Diseases |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |
| D000089183 | Axial Spondyloarthritis |
| D025242 | Spondylarthropathies |
| D025241 | Spondylarthritis |
| D013166 | Spondylitis |
| D013122 | Spinal Diseases |
| D001847 | Bone Diseases |
| D000844 | Ankylosis |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D014603 | Uveal Diseases |
| D005128 | Eye Diseases |
| D009135 | Muscular Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D015212 | Inflammatory Bowel Diseases |
| D005759 | Gastroenteritis |
| D005767 | Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |
| D007410 | Intestinal Diseases |
| D003092 | Colitis |
| D011349 | Proctitis |
| D003108 | Colonic Diseases |
| D012810 | Sigmoid Diseases |
| D012002 | Rectal Diseases |
| D003920 | Diabetes Mellitus |
| D044882 | Glucose Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D004700 | Endocrine System Diseases |
| D020966 | Muscular Disorders, Atrophic |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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