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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

Study Description
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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

Condition or disease Intervention/treatment Phase
Cleft Lip and Palate Genetic: identification of genetic factors Not Applicable

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 Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 30 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing GENEPIC
Actual Study Start Date : November 30, 2016
Estimated Primary Completion Date : November 30, 2022
Estimated Study Completion Date : November 30, 2022

Resource links provided by the National Library of Medicine


Arms and Interventions
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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


Outcome Measures
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Primary Outcome Measures :
  1. Identification of genetic factors [ Time Frame: Day 1 ]
    Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03065686


Contacts
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Contact: Bénédicte DEMEER, MD +33 3 22 08 75 81 demeer.benedicte@chu-amiens.fr

Locations
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France
CHU Amiens Picardie Recruiting
Amiens, France, 80054
Contact: Bénédicte DEMEER, MD    +33 3 22 08 75 81    demeer.benedicte@chu-amiens.fr   
Sponsors and Collaborators
Centre Hospitalier Universitaire, Amiens
Investigators
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Principal Investigator: Bénédicte DEMEER, MD CHU Amiens
More Information
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Responsible Party: Centre Hospitalier Universitaire, Amiens
ClinicalTrials.gov Identifier: NCT03065686    
Other Study ID Numbers: PI2015_843_0016
First Posted: February 28, 2017    Key Record Dates
Last Update Posted: March 4, 2021
Last Verified: March 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centre Hospitalier Universitaire, Amiens:
Cleft Lip and Palate
CL/P
WES
Additional relevant MeSH terms:
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Cleft Lip
Lip Diseases
Mouth Diseases
Stomatognathic Diseases
 Mouth Abnormalities
Stomatognathic System Abnormalities
Congenital Abnormalities