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

NCT ID: NCT03065686

Last Updated: 2023-02-10

Basic Information

• Recruitment Status: UNKNOWN
• Clinical Phase: NA
• Total Enrollment: 30 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2016-11-30
• Study Completion Date: 2023-11-30

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.

Conditions

Cleft Lip and Palate

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

Identification of genetic factors

Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing

Group Type: EXPERIMENTAL

identification of genetic factors

Intervention Type: GENETIC

Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing

Interventions

identification of genetic factors

Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing

Intervention Type: GENETIC

Eligibility Criteria

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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Centre Hospitalier Universitaire, Amiens

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Bénédicte DEMEER, MD

Role: PRINCIPAL_INVESTIGATOR

CHU Amiens

Locations

CHU Amiens Picardie

Amiens, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Bénédicte DEMEER, MD

Role: CONTACT

demeer.benedicte@chu-amiens.fr

+33 3 22 08 75 81

Facility Contacts

Bénédicte DEMEER, MD

Role: primary

demeer.benedicte@chu-amiens.fr

+33 3 22 08 75 81

Other Identifiers

PI2015_843_0016

Identifier Type: -

Identifier Source: org_study_id