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

Cleft Lip and Palate Clinical Trial

— GENEPIC  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03065686
• Other study ID #: PI2015_843_0016
• Status: Recruiting
• Phase: N/A
• Start date: November 30, 2016
• Est. completion date: November 30, 2023

Study information

• Verified date: February 2023
• Source: Centre Hospitalier Universitaire, Amiens
• Contact: Bénédicte DEMEER, MD
• Phone: +33 3 22 08 75 81
• Email: demeer.benedicte[@]chu-amiens.fr
• Is FDA regulated: No
• Study type: Interventional

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 30
• Est. completion date: November 30, 2023
• Est. primary completion date: November 30, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Cleft Lip
• Cleft Lip and Palate

Intervention

Genetic:
• identification of genetic factors
Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing

Locations

Country	Name	City	State
France	CHU Amiens Picardie	Amiens

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire, Amiens

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of genetic factors	Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).	Day 1