Cleft Lip and PalateGENEPICNCT03065686
Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing
A study testing identification of genetic factors in people with Cleft Lip and Palate, run by Centre Hospitalier Universitaire, Amiens at 1 site in France.
Trial summary
Despite significant progress made in identification on numerous genes and gene pathways critical for craniofacial development, several approaches, ie mutation screening of specific candidates, association studies and even genome-wide scans have largely failed to reveal the molecular basis of NS human clefting Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Cleft Lip and Palate
- What is being tested?
- identification of genetic factors
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- 30 Nov 2016to 30 Nov 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Subject with a NSCL/P or CL/P of unknown etiology,
- national health care insurance holders
Who cannot join
- Subject with a CL/P of known etiology,
- Subject with a NSCL/P and an IRF6 mutation
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU Amiens Picardie
Amiens, 80054
Bénédicte DEMEER, MD, +33 3 22 08 75 81, demeer.benedicte@chu-amiens.fr
About this study
Official title: Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing GENEPIC
Despite significant progress made in identification on numerous genes and gene pathways critical for craniofacial development, several approaches, ie mutation screening of specific candidates, association studies and even genome-wide scans have largely failed to reveal the molecular basis of NS human clefting
Read the detailed description
Despite significant progress made in identification on numerous genes and gene pathways critical for craniofacial development, several approaches, ie mutation screening of specific candidates, association studies and even genome-wide scans have largely failed to reveal the molecular basis of NS human clefting. Moreover, the efficiency of Whole Exome Sequencing -WES- was proven. The efficiency of WES was proven by the identification of the genes causing Freeman Sheldon and Miller's syndrome, followed by several others. In the Picardy region, management and follow-up of orofacial cleft patients are well-organised by a multidisciplinary team in the university hospital of Amiens. The investigators therefore decided to perform whole exome sequencing (WES) on precisely phenotyped non-syndromic CL/P patients followed in our center.
- Conditions
- Cleft Lip and Palate
- Being tested
- identification of genetic factors
- Keywords
- Cleft Lip and Palate, CL/P, WES
- Medical subject headings
- Cleft Lip
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
identification of genetic factorsGenetic
Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing
| Study group | Role | What they receive |
|---|---|---|
| Identification of genetic factors | Experimental | Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing Receives: Genetic: identification of genetic factors |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of genetic factors
Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2017
- Study start30 Nov 2016
- Primary completion30 Nov 2027 (estimated)
- Study completion30 Nov 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cleft Lip and PalateStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire, AmiensThe 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
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire, Amiens
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Bénédicte DEMEER, MD, Principal investigator, CHU Amiens
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03065686
- Sponsor's protocol ID
- PI2015_843_0016
- Acronym
- GENEPIC
- Status last verified
- May 2026
- First submitted
- 23 Feb 2017
- Last updated
- 13 May 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing GENEPIC
- ClinicalTrials.gov ID
- NCT03065686
- Acronym / sponsor ID
- GENEPIC / PI2015_843_0016
- Conditions
- Cleft Lip and Palate
- Keywords
- Cleft Lip and Palate, CL/P, WES
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire, AmiensUniversity, hospital or other
- Study start
- 30 Nov 2016 (actual)
- Primary completion
- 30 Nov 2027 (estimated)
- Study completion
- 30 Nov 2027 (estimated)
- First posted
- 28 Feb 2017 (actual)
- 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.
Despite significant progress made in identification on numerous genes and gene pathways critical for craniofacial development, several approaches, ie mutation screening of specific candidates, association studies and even genome-wide scans have largely failed to reveal the molecular basis of NS human clefting
Detailed description
Despite significant progress made in identification on numerous genes and gene pathways critical for craniofacial development, several approaches, ie mutation screening of specific candidates, association studies and even genome-wide scans have largely failed to reveal the molecular basis of NS human clefting. Moreover, the efficiency of Whole Exome Sequencing -WES- was proven. The efficiency of WES was proven by the identification of the genes causing Freeman Sheldon and Miller's syndrome, followed by several others. In the Picardy region, management and follow-up of orofacial cleft patients are well-organised by a multidisciplinary team in the university hospital of Amiens. The investigators therefore decided to perform whole exome sequencing (WES) on precisely phenotyped non-syndromic CL/P patients followed in our center.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Identification of genetic factors | Experimental | Genetic: identification of genetic factorsClinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- Subject with a NSCL/P or CL/P of unknown etiology,
- national health care insurance holders
Key exclusion criteria (2 listed)
- Subject with a CL/P of known etiology,
- Subject with a NSCL/P and an IRF6 mutation
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 |
|---|---|---|
| identification of genetic factorsClinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing | Genetic | Identification of genetic factors |
Primary outcome
Identification of genetic factors
Time frame: Day 1
Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 May 2026.
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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.
Bénédicte DEMEER, MD principal investigator
CHU Amiens
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing identification of genetic factors in people with Cleft Lip and Palate, run by Centre Hospitalier Universitaire, Amiens 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 2 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: looking for participants now, as of the sponsor's last update on 13 May 2026. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Bénédicte DEMEER, MD (+33 3 22 08 75 81, demeer.benedicte@chu-amiens.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genetic factors (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 13 May 2026.