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

NCT02067962 | Completed DMC

• 1 other identifier: 9258
• Study Type: interventional
• Target: 30
• Locations: 0 countries
• Sites: N/A

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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

Juvenile idiopathic arthritis.

OTHER

Blood sample

Biological: Blood sample

Interventions

Blood sample BIOLOGICAL

Blood sample

Juvenile idiopathic arthritis.

Eligibility Criteria

• Age: 1 Month - 40 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Related Publications (1)

• 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.

  PMID: 27965258 DERIVED

MeSH Terms

Conditions

Arthritis, Juvenile

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Arthritis; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• David DG GENEVIEVE, PU-PH

  Montpellier University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 13, 2014
• First Posted: February 20, 2014
• Study Start: March 5, 2014
• Primary Completion: September 24, 2014
• Study Completion: June 24, 2015
• Last Updated: March 17, 2020

Record last verified: 2020-03