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

Cleft Lip and Palate Clinical Trial

Official title: Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing GENEPIC

Status Recruiting

Clinical 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

Clinical Trial 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. ;

Related Conditions & MeSH terms

• Cleft Lip
• Cleft Lip and Palate

• NCT number: NCT03065686
• Study type: Interventional
• Source: Centre Hospitalier Universitaire, Amiens
• Contact: Bénédicte DEMEER, MD
• Phone: +33 3 22 08 75 81
• Email: demeer.benedicte@chu-amiens.fr
• Status: Recruiting
• Phase: N/A
• Start date: November 30, 2016
• Completion date: November 30, 2023