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RecruitingNCT03065686GENEPICUpdated May 13, 2026

Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing

An interventional study of identification of genetic factors in Cleft Lip and Palate, sponsored by Centre Hospitalier Universitaire, Amiens. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2026-05-13.

Sponsored by Centre Hospitalier Universitaire, Amiens · Not applicable, Interventional, and Basic science

From the registry’s dates

  • Started Nov 2016; still recruiting 9 years 11 months later.
Phase
Not applicable
Study type
Interventional
Enrollment
30
Allocation
Not applicable
Sex
All
01

Study 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 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.

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Conditions studied

  • Cleft Lip and Palate

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Keywords

  • Cleft Lip and Palate
  • CL/P
  • WES
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In context

Cleft Lip

168 studies on the registry are indexed under Cleft Lip; 51 are open to participants now.

This study's planned enrollment of 30 is close to the median of 30 across 116 interventional studies indexed under Cleft Lip.

Browse Cleft Lip studies →

Lead sponsor

Centre Hospitalier Universitaire, Amiens is the lead sponsor of 586 studies on the registry; 185 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • Subject with a NSCL/P or CL/P of unknown etiology,
  • national health care insurance holders

Exclusion criteria

Exclusion Criteria:

  • Subject with a CL/P of known etiology,
  • Subject with a NSCL/P and an IRF6 mutation
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Study design

Phase
Not applicable
Primary purpose
Basic science
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
30 participants (estimated)

Study arms

  • Experimental
    Identification of genetic factors

    Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing

    Genetic: identification of genetic factors

Interventions

  • Geneticidentification of genetic factors

    Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing

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What researchers measure

Primary outcomes

  1. Identification of genetic factors

    Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).

    Time frame: Day 1

07

Study locations

1 of 1 sites recruiting
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Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Started Nov 2016 (actual). Primary completion is estimated for Nov 2027, 132 months after the start.

Of 64 non-industry interventional studies with no phase under Cleft Lip, half reached primary completion within 22 months of starting (the median), counting those still running; a quarter within 15 and three quarters within 33. This study's planned 132 months is above that.

Counting every sponsor, half of 65 studies reached it within 22 months; a quarter within 15 and three quarters within 33.

How these figures are worked out, and which studies are left out of them.

Registered
Feb 23, 2017
First posted
Feb 28, 2017
StartActual
Nov 30, 2016
Primary completionEst.
Nov 30, 2027
CompletionEst.
Nov 30, 2027
Last update
May 13, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on May 13, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT03065686
Responsible party
Sponsor
First posted
Feb 28, 2017
Start date
Nov 30, 2016
Primary completion
Nov 30, 2027 (estimated)
Completion
Nov 30, 2027 (estimated)
Last update
May 13, 2026

Study contacts

Bénédicte DEMEER, MD
Contact
demeer.benedicte@chu-amiens.fr
+33 3 22 08 75 81
Bénédicte DEMEER, MD
principal investigator · CHU Amiens

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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