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

Not Applicable

Recruiting

• Conditions: Cleft Lip and Palate

• Registration Number: NCT03065686
• Lead Sponsor: Centre Hospitalier Universitaire, Amiens

Brief 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

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 Timeline

• Study Start: 2016-11-30
• Study First Submitted: 2017-02-23
• Study First Submitted QC: 2017-02-23
• Study First Posted: 2017-02-28
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-09
• Last Update Posted: 2023-02-10
• Primary Completion: 2023-11-30
• Study Completion: 2023-11-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 30

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Identification of genetic factors	Day 1	Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).

Trial Locations

Locations (1)

CHU Amiens Picardie; 🇫🇷 Amiens, France