Arthritis, Juvenile RheumatoidGenesinJIANCT02067962
Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing
A study testing Blood sample in people with Arthritis, Juvenile Rheumatoid, run by University Hospital, Montpellier.
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… Read more about this study
- Who is it for?
- Ages 1 month to 40 years
- Conditions the study is for
- Arthritis, Juvenile Rheumatoid
- What is being tested?
- Blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- No sites listed yet
- Study dates
- 5 Mar 2014to 24 Jun 2015
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 40 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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
About this study
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
- Being tested
- Blood sample
- 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
- Medical subject headings
- Arthritis, Juvenile
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleBiological
Blood sample
| Study group | Role | What they receive |
|---|---|---|
| Juvenile idiopathic arthritis. | Other | Blood sample Receives: Biological: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Feb 2014 (estimated)
- Study start5 Mar 2014
- Primary completion24 Sep 2014
- Study completion24 Jun 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Arthritis, Juvenile RheumatoidStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- David DG GENEVIEVE, PU-PH, Principal investigator, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02067962
- Sponsor's protocol ID
- 9258
- Acronym
- GenesinJIA
- Status last verified
- Mar 2020
- First submitted
- 13 Feb 2014
- Last updated
- 17 Mar 2020
- Results posted
- No
- Data monitoring committee
- Yes
Publications
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.
PubMed 27965258
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing
- ClinicalTrials.gov ID
- NCT02067962
- Acronym / sponsor ID
- GenesinJIA / 9258
- 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
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 5 Mar 2014 (actual)
- Primary completion
- 24 Sep 2014 (actual)
- Study completion
- 24 Jun 2015 (actual)
- First posted
- 20 Feb 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Juvenile idiopathic arthritis. | Other | Biological: Blood sampleBlood sample |
Who may qualify
- Ages
- 1 month to 40 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sampleBlood sample | Biological | Juvenile idiopathic arthritis. |
Primary outcome
Identification of new genes by Next Generation Squencing (NGS)
Time frame: 1 day
Identification of new genes by Next Generation Squencing (NGS) in order to propose a new classification for prognosis and therapeutic orientation
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Mar 2020.
- Derived from this study: PubMed 27965258Grandemange 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
David DG GENEVIEVE, PU-PH principal investigator
University Hospital, Montpellier
Questions about this trial
What is this clinical trial studying?
A study testing Blood sample in people with Arthritis, Juvenile Rheumatoid, run by University Hospital, Montpellier.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Mar 2020. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of new genes by Next Generation Squencing (NGS) (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02067962, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Mar 2020.