Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing (GenesinJIA)
Primary Purpose
Arthritis, Juvenile Rheumatoid
Status
Completed
Phase
Not Applicable
Locations
Study Type
Interventional
Intervention
Blood sample
Sponsored by
About this trial
This is an interventional diagnostic trial for Arthritis, Juvenile Rheumatoid focused on measuring Juvenile idiopathic arhtritis, JIA, Gene identification, Whole exome sequencing, Next generation sequencing, Identification of molecular basis, Acceptation of both parents to participate to the study
Eligibility Criteria
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
Sites / Locations
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
Juvenile idiopathic arthritis.
Arm Description
Blood sample
Outcomes
Primary Outcome Measures
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
Secondary Outcome Measures
Full Information
NCT ID
NCT02067962
First Posted
February 13, 2014
Last Updated
March 13, 2020
Sponsor
University Hospital, Montpellier
1. Study Identification
Unique Protocol Identification Number
NCT02067962
Brief Title
Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing
Acronym
GenesinJIA
Official Title
Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing
Study Type
Interventional
2. Study Status
Record Verification Date
March 2020
Overall Recruitment Status
Completed
Study Start Date
March 5, 2014 (Actual)
Primary Completion Date
September 24, 2014 (Actual)
Study Completion Date
June 24, 2015 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Montpellier
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Arthritis, Juvenile Rheumatoid
Keywords
Juvenile idiopathic arhtritis, JIA, Gene identification, Whole exome sequencing, Next generation sequencing, Identification of molecular basis, Acceptation of both parents to participate to the study
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
30 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Juvenile idiopathic arthritis.
Arm Type
Other
Arm Description
Blood sample
Intervention Type
Biological
Intervention Name(s)
Blood sample
Intervention Description
Blood sample
Primary Outcome Measure Information:
Title
Identification of new genes by Next Generation Squencing (NGS)
Description
Identification of new genes by Next Generation Squencing (NGS) in order to propose a new classification for prognosis and therapeutic orientation
Time Frame
1 day
10. Eligibility
Sex
All
Minimum Age & Unit of Time
1 Month
Maximum Age & Unit of Time
40 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
David DG GENEVIEVE, PU-PH
Organizational Affiliation
Montpellier University Hospital
Official's Role
Principal Investigator
12. IPD Sharing Statement
Citations:
PubMed Identifier
27965258
Citation
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodiere M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Genevieve D. A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13.
Results Reference
derived
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Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing
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