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

This study is not yet open for participant recruitment.
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Verified February 2014 by University Hospital, Montpellier
Information provided by (Responsible Party):
University Hospital, Montpellier Identifier:
First received: February 13, 2014
Last updated: February 17, 2014
Last verified: February 2014
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 Intervention
Arthritis, Juvenile Rheumatoid Biological: Blood sample

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:

Further study details as provided by University Hospital, Montpellier:

Primary Outcome Measures:
  • 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

Estimated Enrollment: 30
Study Start Date: March 2014
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
No Intervention: Juvenile idiopathic arthritis.
Blood sample
Biological: Blood sample
Blood sample


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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02067962

Sponsors and Collaborators
University Hospital, Montpellier
Principal Investigator: David DG GENEVIEVE, PU-PH Montpellier university hospital
  More Information

Responsible Party: University Hospital, Montpellier Identifier: NCT02067962     History of Changes
Other Study ID Numbers: UF9258
Study First Received: February 13, 2014
Last Updated: February 17, 2014

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:
Arthritis, Juvenile
Joint Diseases
Musculoskeletal Diseases
Rheumatic Diseases
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases processed this record on September 21, 2017