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

NCT02067962 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 30

Last updated 2020-03-17

No results posted yet for this study

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.

Conditions

  • Arthritis, Juvenile Rheumatoid

Interventions

BIOLOGICAL

Blood sample

Blood sample

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • David DG GENEVIEVE, PU-PH · Montpellier University Hospital

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
1 Month
Max Age
40 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-03-05
Primary Completion
2014-09-24
Completion
2015-06-24

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02067962 on ClinicalTrials.gov