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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

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

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. 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.

Detailed Summary:
Sponsor: Centre Hospitalier Universitaire, Amiens

Current Primary Outcome: Identification of genetic factors [ Time Frame: Day 1 ]

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


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Centre Hospitalier Universitaire, Amiens

Dates:
Date Received: February 23, 2017
Date Started: September 23, 2016
Date Completion: October 14, 2020
Last Updated: February 23, 2017
Last Verified: February 2017