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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02067962
Recruitment Status : Completed
First Posted : February 20, 2014
Last Update Posted : March 17, 2020
Information provided by (Responsible Party):
University Hospital, Montpellier

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.

Condition or disease Intervention/treatment Phase
Arthritis, Juvenile Rheumatoid Biological: Blood sample Not Applicable

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 30 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing
Actual Study Start Date : March 5, 2014
Actual Primary Completion Date : September 24, 2014
Actual Study Completion Date : June 24, 2015

Resource links provided by the National Library of Medicine

Arm Intervention/treatment
Juvenile idiopathic arthritis.
Blood sample
Biological: Blood sample
Blood sample

Primary Outcome Measures :
  1. Identification of new genes by Next Generation Squencing (NGS) [ Time Frame: 1 day ]
    Identification of new genes by Next Generation Squencing (NGS) in order to propose a new classification for prognosis and therapeutic orientation

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   1 Month to 40 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

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 identifier (NCT number): NCT02067962

Sponsors and Collaborators
University Hospital, Montpellier
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Principal Investigator: David DG GENEVIEVE, PU-PH Montpellier University Hospital
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: University Hospital, Montpellier Identifier: NCT02067962    
Other Study ID Numbers: 9258
First Posted: February 20, 2014    Key Record Dates
Last Update Posted: March 17, 2020
Last Verified: March 2020
Keywords provided by University Hospital, Montpellier:
Juvenile idiopathic arhtritis
Gene identification
Whole exome sequencing
Next generation sequencing
Identification of molecular basis
Acceptation of both parents to participate to the study
Additional relevant MeSH terms:
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Arthritis, Juvenile
Joint Diseases
Musculoskeletal Diseases
Rheumatic Diseases
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases