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

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ClinicalTrials.gov Identifier: NCT03065686
Recruitment Status : Recruiting
First Posted : February 28, 2017
Last Update Posted : March 4, 2021
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire, Amiens

Tracking Information
First Submitted Date  ICMJE February 23, 2017
First Posted Date  ICMJE February 28, 2017
Last Update Posted Date March 4, 2021
Actual Study Start Date  ICMJE November 30, 2016
Estimated Primary Completion Date November 30, 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: February 23, 2017)
Identification of genetic factors [ Time Frame: Day 1 ]
Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).
Original Primary Outcome Measures  ICMJE Same as current
Change History
Current Secondary Outcome Measures  ICMJE Not Provided
Original Secondary Outcome Measures  ICMJE Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing
Official Title  ICMJE 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
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  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Condition  ICMJE Cleft Lip and Palate
Intervention  ICMJE Genetic: identification of genetic factors
Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing
Study Arms  ICMJE Experimental: Identification of genetic factors
Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing
Intervention: Genetic: identification of genetic factors
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: February 23, 2017)
30
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE November 30, 2022
Estimated Primary Completion Date November 30, 2022   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE Child, Adult, Older Adult
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE
Contact: Bénédicte DEMEER, MD +33 3 22 08 75 81 demeer.benedicte@chu-amiens.fr
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03065686
Other Study ID Numbers  ICMJE PI2015_843_0016
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Centre Hospitalier Universitaire, Amiens
Study Sponsor  ICMJE Centre Hospitalier Universitaire, Amiens
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Bénédicte DEMEER, MD CHU Amiens
PRS Account Centre Hospitalier Universitaire, Amiens
Verification Date March 2021

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP