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

Not Applicable

Completed

• Conditions: Arthritis, Juvenile Rheumatoid
• Interventions: Biological: Blood sample

• Registration Number: NCT02067962
• Lead Sponsor: 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2014-02-13
• Study First Submitted QC: 2014-02-17
• Study First Posted: 2014-02-20
• Study Start: 2014-03-05
• Primary Completion: 2014-09-24
• Study Completion: 2015-06-24
• Status Verified: 2020-03
• Last Update Submitted: 2020-03-13
• Last Update Posted: 2020-03-17

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 30

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Juvenile idiopathic arthritis.	Blood sample	Blood sample

Primary Outcome Measures

Name	Time	Method
Identification of new genes by Next Generation Squencing (NGS)	1 day	Identification of new genes by Next Generation Squencing (NGS) in order to propose a new classification for prognosis and therapeutic orientation