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NCT Number: NCT03065686

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

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

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Key information

Conditions

Cleft Lip and Palate Cleft Lip Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Lip Diseases Mouth Abnormalities Mouth Diseases Stomatognathic Diseases Stomatognathic System Abnormalities

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

identification of genetic factors

Genetic

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

Primary outcomes

  1. Identification of genetic factors

    Time frame: Day 1

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

Study contacts

Contact information is provided by the study sponsor or research team.

Bénédicte DEMEER, MD

CONTACT

[email protected]

+33 3 22 08 75 81

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire, Amiens

Other

Registry information

Official study title

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

Acronym: GENEPIC

Important dates

Study start
2016
Primary completion
2027
Study completion
2027
First posted
Feb 28, 2017
Registry last updated
May 13, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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