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

February 9, 2023 updated by: Centre Hospitalier Universitaire, Amiens

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

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

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Anticipated)

30

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: BASIC_SCIENCE
  • Allocation: NA
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
EXPERIMENTAL: Identification of genetic factors
Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing
Genetic: identification of genetic factors
Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identification of genetic factors
Time Frame: Day 1
Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).
Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire, Amiens

Investigators

  • Principal Investigator: Bénédicte DEMEER, MD, CHU Amiens

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

November 30, 2016

Primary Completion (ANTICIPATED)

November 30, 2023

Study Completion (ANTICIPATED)

November 30, 2023

Study Registration Dates

First Submitted

February 23, 2017

First Submitted That Met QC Criteria

February 23, 2017

First Posted (ACTUAL)

February 28, 2017

Study Record Updates

Last Update Posted (ACTUAL)

February 10, 2023

Last Update Submitted That Met QC Criteria

February 9, 2023

Last Verified

February 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PI2015_843_0016

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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