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OpenTrials
Completed

NCT Number: NCT02067962

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

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.

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Key information

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Blood sample

Biological

Blood sample

Primary outcomes

  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

Sponsors and collaborators

Lead sponsor

University Hospital, Montpellier

Other

Registry information

Acronym: GenesinJIA

Important dates

Study start
2014
Primary completion
2014
Study completion
2015
First posted
Feb 20, 2014
Registry last updated
Mar 17, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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