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Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing (GenesinJIA)

Primary Purpose

Arthritis, Juvenile Rheumatoid

Status
Completed
Phase
Not Applicable
Locations
Study Type
Interventional
Intervention
Blood sample
Sponsored by
University Hospital, Montpellier
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Arthritis, Juvenile Rheumatoid focused on measuring Juvenile idiopathic arhtritis, JIA, Gene identification, Whole exome sequencing, Next generation sequencing, Identification of molecular basis, Acceptation of both parents to participate to the study

Eligibility Criteria

1 Month - 40 Years (Child, Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

  • AJI oligoarticular form <4 joints
  • AJI Polyarticular form> 4 joints
  • AJI Forms systemic arthritis
  • duration For more than six weeks
  • Onset of symptoms before the age of 16 years
  • Or rheumatoid factor or ANA + or CCP +Acceptation of both parenth to participate to the research and to perfom blood samples for genetic studies

Exclusion Criteria:

  • The (the) patient (e) is under tutorship or curatorship
  • The (the) patient (e) is under judicial protection
  • The (the) patient (e), or his parents, refuses to sign the consent
  • It is impossible to give (the) patient (e) information lit
  • JIA spondyloarthropathies such
  • JIA type psoriatic arthritis or enthesopathy
  • JIA not classifiable

Sites / Locations

    Arms of the Study

    Arm 1

    Arm Type

    Other

    Arm Label

    Juvenile idiopathic arthritis.

    Arm Description

    Blood sample

    Outcomes

    Primary Outcome Measures

    Identification of new genes by Next Generation Squencing (NGS)
    Identification of new genes by Next Generation Squencing (NGS) in order to propose a new classification for prognosis and therapeutic orientation

    Secondary Outcome Measures

    Full Information

    First Posted
    February 13, 2014
    Last Updated
    March 13, 2020
    Sponsor
    University Hospital, Montpellier
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    1. Study Identification

    Unique Protocol Identification Number
    NCT02067962
    Brief Title
    Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing
    Acronym
    GenesinJIA
    Official Title
    Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing
    Study Type
    Interventional

    2. Study Status

    Record Verification Date
    March 2020
    Overall Recruitment Status
    Completed
    Study Start Date
    March 5, 2014 (Actual)
    Primary Completion Date
    September 24, 2014 (Actual)
    Study Completion Date
    June 24, 2015 (Actual)

    3. Sponsor/Collaborators

    Responsible Party, by Official Title
    Sponsor
    Name of the Sponsor
    University Hospital, Montpellier

    4. Oversight

    Data Monitoring Committee
    Yes

    5. Study Description

    Brief Summary
    Juvenile idiopathic arthritis (JIA) is considered to be a multifactorial disease caused by a combination of environmental factors and predisposing genetic factors. Twins studies found a strong heritability (strong genetic factors) but genetic studies such association studies of large cohorts of patient (GWAS or Genome Wide Association Study) have elucidated less than 20 % of the genetic basis of JIA. The vision of the genetics of multifactorial diseases has recently changed revealing a large clinical and genetic heterogeneity of these diseases. Indeed, the advent of next-generation sequencing identified non-multifactorial genetic hereditary disease related to mutations in genes having strong effect on the onset of the disease without real impact of environmental factors among the so called "multifactorial diseases" (Parkinson's, diabetes, osteoarthritis, Alzheimer's, hypertension ...)The investigators propose to study 30 families with several forms of JIA by next-generation sequencing. Identifying the genetic basis of JIA in these families will help to better understand the physiopathology of this disease and may help to the identification of novel therapeutic targets for other patients with JIA.

    6. Conditions and Keywords

    Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
    Arthritis, Juvenile Rheumatoid
    Keywords
    Juvenile idiopathic arhtritis, JIA, Gene identification, Whole exome sequencing, Next generation sequencing, Identification of molecular basis, Acceptation of both parents to participate to the study

    7. Study Design

    Primary Purpose
    Diagnostic
    Study Phase
    Not Applicable
    Interventional Study Model
    Single Group Assignment
    Masking
    None (Open Label)
    Allocation
    N/A
    Enrollment
    30 (Actual)

    8. Arms, Groups, and Interventions

    Arm Title
    Juvenile idiopathic arthritis.
    Arm Type
    Other
    Arm Description
    Blood sample
    Intervention Type
    Biological
    Intervention Name(s)
    Blood sample
    Intervention Description
    Blood sample
    Primary Outcome Measure Information:
    Title
    Identification of new genes by Next Generation Squencing (NGS)
    Description
    Identification of new genes by Next Generation Squencing (NGS) in order to propose a new classification for prognosis and therapeutic orientation
    Time Frame
    1 day

    10. Eligibility

    Sex
    All
    Minimum Age & Unit of Time
    1 Month
    Maximum Age & Unit of Time
    40 Years
    Accepts Healthy Volunteers
    No
    Eligibility Criteria
    Inclusion Criteria: AJI oligoarticular form <4 joints AJI Polyarticular form> 4 joints AJI Forms systemic arthritis duration For more than six weeks Onset of symptoms before the age of 16 years Or rheumatoid factor or ANA + or CCP +Acceptation of both parenth to participate to the research and to perfom blood samples for genetic studies Exclusion Criteria: The (the) patient (e) is under tutorship or curatorship The (the) patient (e) is under judicial protection The (the) patient (e), or his parents, refuses to sign the consent It is impossible to give (the) patient (e) information lit JIA spondyloarthropathies such JIA type psoriatic arthritis or enthesopathy JIA not classifiable
    Overall Study Officials:
    First Name & Middle Initial & Last Name & Degree
    David DG GENEVIEVE, PU-PH
    Organizational Affiliation
    Montpellier University Hospital
    Official's Role
    Principal Investigator

    12. IPD Sharing Statement

    Citations:
    PubMed Identifier
    27965258
    Citation
    Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodiere M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Genevieve D. A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13.
    Results Reference
    derived

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