Phenomics in Autoimmune and Inflammatory Diseases (TRANSIMMUNOM)

Assistance Publique - Hôpitaux de Paris

Status: Completed

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

Treatments: Other: 1: AID groups; Other: 2: Control groups

Study type: Observational

Funder types: Other

Identifiers

NCT02466217

P141006

2015-A00558-41 (Other Identifier)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 537 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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
  • Chronic lifelong viral infection unrelated to the pathology
  • Mild infection within the last 3 months

Trial design

537 participants in 2 patient groups

1: AID groups

Description:

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

Treatment:

Other: 1: AID groups

2: Control groups

Description:

knee arthritis, hip arthritis, muscular dystrophy, healthy subject

Treatment:

Other: 2: Control groups