Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: identification of genetic factors.
- Who it may be relevant to
- Registry conditions: Cleft Lip and Palate. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing GENEPIC
Overview
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.
Interventions
- Genetic identification of genetic factors
Clinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing
Primary outcome measures
- Identification of genetic factors [Time frame: Day 1]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Basic science
Study locations
France · 1 center
- CHU Amiens Picardie — Amiens
Identifiers
NCT: NCT03065686 · PI2015_843_0016