Crohn DiseaseMC-WESNCT02851134
Search for New Genetic Mutations Major Effect in Crohn's Disease
An observational study of Crohn Disease, run by University Hospital, Lille at 1 site in France.
Trial summary
This study highlight genetics mutations with major effect in Crohn's Disease (CD) by WES in individuals affected and healthy individuals from EPIMAD Inserm InVS registry families. Read more about this study
- Who is it for?
- Ages 5 to 80 years
- Conditions the study is for
- Crohn Disease
- What is being tested?
- genetic analysis and blood and stools samples
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- Apr 2015to Apr 2018
- Phase
- Observational
- 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 5 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Crohn disease subject
Who may be able to join
- Crohn disease subject
- EPIMAD family with, at least, 3 Crohn disease subjects
Who cannot join
- Pregnant or lactating women
Trial locations and contacts
1 site in 1 country.
About this study
This study highlight genetics mutations with major effect in Crohn's Disease (CD) by WES in individuals affected and healthy individuals from EPIMAD Inserm InVS registry families.
Read the detailed description
The EPIMAD Registry covers a large area of Northern France (9 millions inhabitants) and collects all incident CD cases and data from CD multiplex families (families with 3 or more CD affected patients) in the Nord the Pas de Calais the Somme and the Seine Maritime. If the investigators could demonstrate that most CD cases from multiplex families were related to high frequency of NOD2 gene mutations, the investigators found some CD multiplex families without any NOD2 gene involvement. Thus in these families high prevalence of CD cases may rely on other major genetic susceptibility variant(s) that remain to be determined.
this clinical research Whole Exome Sequencing protocol, aiming to highlight genetics mutations with major effect in CD has been initiated.
This study is a familial genetic study with intra-familial controls. The genetics analyses are:
- Ascertain of no significant NOD2 mutation in the family members by Sanger DNA sequencing
- WES (CD patients and family controls unaffected subjects)
- Genotyping of all mutations found, case control and segregation analyses to validate their implication in CD.
- Conditions
- Crohn Disease
- Being tested
- genetic analysis, blood and stools samples
- Keywords
- genetic
- Medical subject headings
- Crohn Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
genetic analysisGenetic
genetic (Whole Exome Sequencing )
blood and stools samplesBiological
biological collection
| Study group | Role | What they receive |
|---|---|---|
| Crohn disease subject | Crohn disease affected subject Receives: Genetic: genetic analysis; Biological: blood and stools samples | |
| family control subject | family control unaffected subject Receives: Genetic: genetic analysis; Biological: blood and stools samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
NOD2 gene status
One of the main inclusion criteria is the absence in the family (and thus in the proband) of any NOD2 mutation that could be related with the high occurrence of Crohn's Disease in the family. So verification of the lack of CD related NOD2 gene mutation is a prerequisite to the inclusion of the family in the protocol. This is achieved by Sanger sequencing of all exons, exon-intron junctions and search for already described intronic mutations in the family proband.
Measured: 8 months after recruiting
Secondary outcomes (1)
Whole Exome Sequencing
Whole Exome Sequencing will be performed in every subject from all families. All genetic variants will be filtered with bioinformatic tools. Genetic variants with putative biological effect, presents in affected CD patients and absents in their unaffected relatives will be further investigated (i.e. cosegregation with the disease, involvement in a given pathway....). This study remains a "pilot study" to identify genetic variants that may be involved in Crohn's Disease.
Measured: 10 months after recruiting
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Aug 2016 (estimated)
- Study startApr 2015
- Primary completionApr 2018
- Study completionApr 2018
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 Crohn DiseaseStudies of the same condition, open and under way.
- More trials run by University Hospital, LilleThe 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
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Corinne Gower, MD, PhD, Principal investigator, University Hospital, Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02851134
- Sponsor's protocol ID
- 2013_53
- Other IDs
- 2014-A00023-44
- Acronym
- MC-WES
- Status last verified
- Feb 2019
- First submitted
- 7 Jun 2016
- Last updated
- 28 Feb 2019
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Publications
Frade-Proud'Hon-Clerc S, Smol T, Frenois F, Sand O, Vaillant E, Dhennin V, Bonnefond A, Froguel P, Fumery M, Guillon-Dellac N, Gower-Rousseau C, Vasseur F. A Novel Rare Missense Variation of the NOD2 Gene: Evidencesof Implication in Crohn's Disease. Int J Mol Sci. 2019 Feb 15;20(4):835. doi: 10.3390/ijms20040835.
PubMed 30769939
Study at a glance
From the registry record, last updated by the sponsor on 28 Feb 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Search for New Genetic Mutations Major Effect in Crohn's Disease
- ClinicalTrials.gov ID
- NCT02851134
- Acronym / sponsor ID
- MC-WES / 2013_53
- Conditions
- Crohn Disease
- Keywords
- genetic
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Study start
- Apr 2015 (actual)
- Primary completion
- Apr 2018 (actual)
- Study completion
- Apr 2018 (actual)
- First posted
- 1 Aug 2016 (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.
This study highlight genetics mutations with major effect in Crohn's Disease (CD) by WES in individuals affected and healthy individuals from EPIMAD Inserm InVS registry families.
Detailed description
The EPIMAD Registry covers a large area of Northern France (9 millions inhabitants) and collects all incident CD cases and data from CD multiplex families (families with 3 or more CD affected patients) in the Nord the Pas de Calais the Somme and the Seine Maritime. If the investigators could demonstrate that most CD cases from multiplex families were related to high frequency of NOD2 gene mutations, the investigators found some CD multiplex families without any NOD2 gene involvement. Thus in these families high prevalence of CD cases may rely on other major genetic susceptibility variant(s) that remain to be determined.
this clinical research Whole Exome Sequencing protocol, aiming to highlight genetics mutations with major effect in CD has been initiated.
This study is a familial genetic study with intra-familial controls. The genetics analyses are:
- Ascertain of no significant NOD2 mutation in the family members by Sanger DNA sequencing
- WES (CD patients and family controls unaffected subjects)
- Genotyping of all mutations found, case control and segregation analyses to validate their implication in CD.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Crohn disease subject | – | Genetic: genetic analysis, Biological: blood and stools samplesCrohn disease affected subject |
| family control subject | – | Genetic: genetic analysis, Biological: blood and stools samplesfamily control unaffected subject |
Who may qualify
- Ages
- 5 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Crohn disease subject
Key inclusion criteria (2 listed)
- Crohn disease subject
- EPIMAD family with, at least, 3 Crohn disease subjects
Key exclusion criteria (1 listed)
- Pregnant or lactating women
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 |
|---|---|---|
| genetic analysisgenetic (Whole Exome Sequencing ) | Genetic | Crohn disease subject, family control subject |
| blood and stools samplesbiological collection | Biological | Crohn disease subject, family control subject |
Primary outcome
NOD2 gene status
Time frame: 8 months after recruiting
One of the main inclusion criteria is the absence in the family (and thus in the proband) of any NOD2 mutation that could be related with the high occurrence of Crohn's Disease in the family. So verification of the lack of CD related NOD2 gene mutation is a prerequisite to the inclusion of the family in the protocol. This is achieved by Sanger sequencing of all exons, exon-intron junctions and search for already described intronic mutations in the family proband.
1 secondary outcome
Whole Exome Sequencing
Time frame: 10 months after recruiting
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 28 Feb 2019.
- Results publication: PubMed 30769939Frade-Proud'Hon-Clerc S, Smol T, Frenois F, Sand O, Vaillant E, Dhennin V, Bonnefond A, Froguel P, Fumery M, Guillon-Dellac N, Gower-Rousseau C, Vasseur F. A Novel Rare Missense Variation of the NOD2 Gene: Evidencesof Implication in Crohn's Disease. Int J Mol Sci. 2019 Feb 15;20(4):835. doi: 10.3390/ijms20040835.
- Individual participant dataSharing planned: Undecided
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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.
Corinne Gower, MD, PhD principal investigator
University Hospital, Lille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Crohn Disease, run by University Hospital, Lille at 1 site in France.
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 2 inclusion and 1 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 28 Feb 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
NOD2 gene status (time frame: 8 months after recruiting). 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 NCT02851134, 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 28 Feb 2019.