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

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

Study Overview

• Status: Recruiting
• Conditions: Cleft Lip and Palate
• Intervention / Treatment: Genetic: identification of genetic factors

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 Type: Interventional
• Enrollment (Estimated): 30
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Bénédicte DEMEER, MD; Phone Number: +33 3 22 08 75 81; Email: demeer.benedicte@chu-amiens.fr

Study Locations

• France
  • Amiens, France, 80054
    • Recruiting
    • CHU Amiens Picardie
    • Contact: Bénédicte DEMEER, MD; Phone Number: +33 3 22 08 75 81; Email: demeer.benedicte@chu-amiens.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Identification of genetic factors; Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing	Genetic: identification of genetic factors; Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of genetic factors	Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).	Day 1

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire, Amiens
• Investigators: Principal Investigator: Bénédicte DEMEER, MD, CHU Amiens

Study record dates

Study Major Dates

• Study Start (Actual): November 30, 2016
• Primary Completion (Estimated): November 30, 2027
• Study Completion (Estimated): November 30, 2027

Study Registration Dates

• First Submitted: February 23, 2017
• First Submitted That Met QC Criteria: February 23, 2017
• First Posted (Actual): February 28, 2017

Study Record Updates

• Last Update Posted (Actual): May 13, 2026
• Last Update Submitted That Met QC Criteria: May 12, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Cleft Lip and Palate; WES; CL/P
• Additional Relevant MeSH Terms: Mouth Diseases; Stomatognathic Diseases; Stomatognathic System Abnormalities; Congenital Abnormalities; Lip Diseases; Mouth Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cleft Lip
• Other Study ID Numbers: PI2015_843_0016

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No