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

Arthritis, Juvenile Rheumatoid Clinical Trial

— GenesinJIA  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02067962
• Other study ID #: 9258
• Status: Completed
• Phase: N/A
• Start date: March 5, 2014
• Est. completion date: June 24, 2015

Study information

• Verified date: March 2020
• Source: University Hospital, Montpellier
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 30
• Est. completion date: June 24, 2015
• Est. primary completion date: September 24, 2014
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Month to 40 Years

Eligibility

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

Related Conditions & MeSH terms

• Arthritis
• Arthritis, Juvenile
• Arthritis, Juvenile Rheumatoid

Intervention

Biological:
• Blood sample
Blood sample

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Montpellier

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of new genes by Next Generation Squencing (NGS)	Identification of new genes by Next Generation Squencing (NGS) in order to propose a new classification for prognosis and therapeutic orientation	1 day