Phenomics in Autoimmune and Inflammatory Diseases

NCT02466217 | Completed

• 2 other identifiers: P1410062015-A00558-41
• Study Type: observational
• Target: 537
• Locations: 1 country
• Sites: 2

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.

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

Keywords

Auto-immune disease; Auto-inflammatory disease; Omics; System biology

Outcome Measures

Primary Outcomes (6)

• 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

  at day 0, no follow-up

Secondary Outcomes (12)

• Changes in gene expression intensity between patients and healthy controls - for each 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 Microbiote composition 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

Study Arms (2)

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

Other: 1: AID groups

2: Control groups

knee arthritis, hip arthritis, muscular dystrophy, healthy subject

Other: 2: Control groups

Interventions

1: AID groups OTHER

Clinical and Biological investigations

1: AID groups

2: Control groups OTHER

Clinical and Biological investigations

2: Control groups

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• For IADs patients
• Unauthorized treatment (anticancer chemotherapy)
• For Healthy volunteers
• Contra-indications for donating blood except from age
• Known history of IAD (eg: Psoriasis)
• Pregnant woman
• 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
• Chronic lifelong viral infection unrelated to the pathology
• Mild infection within the last 3 months

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• National Research Agency, France: collaborator

Study Sites (2)

Rhumatologie - Hôpital Saint-Antoine

Paris, 75012, France

Location

CIC Paris-Est, Hôpital PITIE SALPETRIERE

Paris, 75013, France

Location

Related Publications (2)

• 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.

  PMID: 38182406 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.

  PMID: 30166293 DERIVED

MeSH Terms

Conditions

Arthritis, Rheumatoid; Spondylitis, Ankylosing; Lupus Erythematosus, Systemic; Antiphospholipid Syndrome; Vasculitis; Uveitis; Myositis; Crohn Disease; Proctocolitis; Diabetes Mellitus, Type 1; Muscular Dystrophies

Condition Hierarchy (Ancestors)

Arthritis; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases; Axial Spondyloarthritis; Spondylarthropathies; Spondylarthritis; Spondylitis; Spinal Diseases; Bone Diseases; Ankylosis; Vascular Diseases; Cardiovascular Diseases; Uveal Diseases; Eye Diseases; Muscular Diseases; Neuromuscular Diseases; Nervous System Diseases; Inflammatory Bowel Diseases; Gastroenteritis; Gastrointestinal Diseases; Digestive System Diseases; Intestinal Diseases; Colitis; Proctitis; Colonic Diseases; Sigmoid Diseases; Rectal Diseases; Diabetes Mellitus; Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases; Muscular Disorders, Atrophic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• David KLATZMANN, MD, PhD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 12, 2015
• First Posted: June 9, 2015
• Study Start: July 29, 2015
• Primary Completion: July 14, 2022
• Study Completion: July 18, 2022
• Last Updated: August 8, 2023

Record last verified: 2023-08

Locations

FR (2)