Phenomics in Autoimmune and Inflammatory Diseases

NCT ID: NCT02466217

Last Updated: 2023-08-08

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 537 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-07-29
• Study Completion Date: 2022-07-18

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.

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

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

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

1: AID groups

Intervention Type: OTHER

Clinical and Biological investigations

2: Control groups

knee arthritis, hip arthritis, muscular dystrophy, healthy subject

2: Control groups

Intervention Type: OTHER

Clinical and Biological investigations

Interventions

1: AID groups

Clinical and Biological investigations

Intervention Type: OTHER

2: Control groups

Clinical and Biological investigations

Intervention Type: OTHER

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)

• 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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Research Agency, France

OTHER

Sponsor Role: collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

David KLATZMANN, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Locations

Rhumatologie - Hôpital Saint-Antoine

Paris, , France

CIC Paris-Est, Hôpital PITIE SALPETRIERE

Paris, , France

Countries

France

References

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.

Reference Type: DERIVED

PMID: 38182406 (View on PubMed)

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.

Reference Type: DERIVED

PMID: 30166293 (View on PubMed)

Other Identifiers

2015-A00558-41

Identifier Type: OTHER

Identifier Source: secondary_id

P141006

Identifier Type: -

Identifier Source: org_study_id