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Phenomics in Autoimmune and Inflammatory Diseases (TRANSIMMUNOM)

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ClinicalTrials.gov Identifier: NCT02466217
Recruitment Status : Recruiting
First Posted : June 9, 2015
Last Update Posted : December 13, 2016
Sponsor:
Collaborator:
National Research Agency, France
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

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.

Condition or disease Intervention/treatment
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 Other: 1: AID groups Other: 2: Control groups

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.


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Study Type : Observational
Estimated Enrollment : 1300 participants
Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Clinical and Multi-omics Cross-phenotyping of Patients With Autoimmune and Auto-inflammatory Diseases
Study Start Date : July 2015
Estimated Primary Completion Date : July 2019
Estimated Study Completion Date : July 2021


Group/Cohort Intervention/treatment
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
Clinical and Biological investigations

2: Control groups
knee arthritis, hip arthritis, muscular dystrophy, healthy subject
Other: 2: Control groups
Clinical and Biological investigations




Primary Outcome Measures :
  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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 Outcome Measures :
  1. Changes in gene expression intensity between patients and healthy controls - for each Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  2. Changes in Tregs and Tconvs TCR sequence frequencies between patients and healthy controls - for each Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  3. Characterization of HLA and SNP profiles in patients and healthy controls - for each Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  4. Changes in Microbiote composition between patients and healthy controls - for each Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  5. Changes in cytokines and chemokines expression levels between patients and healthy controls - for each Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  6. Changes in immune cells frequencies between patients and healthy controls - for each Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  7. Identification of specific and common gene expression levels between patients - between Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  8. Identification of specific and common Tregs and Tconvs TCR sequence frequencies between patients - between Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  9. Characterization of specific and common HLA and SNP profiles in patients - between Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  10. Identification of specific and common microbiote composition between patients - between Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  11. Identification of specific and common cytokines and chemokines expression levels between patients - between Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis

  12. Characterization specific and common variations in immune cells frequencies between patients - between Disease cohorts [ Time Frame: at day 0, no follow-up ]
    Identification of new biomarkers and potential therapeutic by multiscale analysis



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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
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
    • Chronic lifelong viral infection unrelated to the pathology
    • Mild infection within the last 3 months

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02466217


Contacts
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Contact: David KLATZMANN, MD, PhD 0033 1 42 17 74 61 david.klatzmann@upmc.fr
Contact: Roberta LORENZON, MD 33 1 42 17 85 33 roberta.lorenzon@upmc.fr

Locations
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France
Rhumatologie - Hôpital Saint-Antoine Recruiting
Paris, France, 75012
Contact: Francis BERENBAUM, MD, PhD    33 1 49 28 25 20    francis.berenbaum@aphp.fr   
Contact: Jérémie SELLAM, MD, PhD    33 1 49 28 25 20    jeremie.sellam@aphp.fr   
CIC Paris-Est, Hôpital PITIE SALPETRIERE Recruiting
Paris, France, 75013
Contact: Christian FUNCK- BRENTANO, MD, PhD    0033 1 42 17 85 31    christian.funck-brentano@psl.aphp.fr   
Contact: Roberta LORENZON, MD    0033 1 42 17 85 33    roberta.lorenzon@upmc.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
National Research Agency, France
Investigators
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Principal Investigator: David KLATZMANN, MD, PhD Assistance Publique - Hôpitaux de Paris

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT02466217     History of Changes
Other Study ID Numbers: P141006
2015-A00558-41 ( Other Identifier: EUDRACT )
First Posted: June 9, 2015    Key Record Dates
Last Update Posted: December 13, 2016
Last Verified: December 2016

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Auto-immune disease
Auto-inflammatory disease
Omics
System biology

Additional relevant MeSH terms:
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Syndrome
Arthritis
Arthritis, Rheumatoid
Diabetes Mellitus, Type 1
Crohn Disease
Lupus Erythematosus, Systemic
Muscular Dystrophies
Uveitis
Spondylitis
Spondylitis, Ankylosing
Vasculitis
Myositis
Antiphospholipid Syndrome
Cryopyrin-Associated Periodic Syndromes
Fever
Hereditary Autoinflammatory Diseases
Proctocolitis
Disease
Pathologic Processes
Joint Diseases
Musculoskeletal Diseases
Rheumatic Diseases
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases
Diabetes Mellitus
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases
Inflammatory Bowel Diseases