Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping (CARTOFENTE)
Orofacial clefts, the most common congenital craniofacial malformations, have a complex etiology involving an interaction between genetic and environmental factors.
Chromosomal abnormalities, including structural variations, represent a major cause of human pathology. Recently, technological developments and the introduction of next-generation sequencing (NGS) technologies have revolutionized the field of medical genetics.
Optical genome mapping (OGM) is an innovative, high-resolution "long read" technique that enables the identification of all classes of chromosomal variation, consisting in the direct visualization of long, labeled DNA molecules throughout the genome. This technology is gradually becoming an essential tool for studying onco-hematology and constitutional genetic pathologies The purpose of this study is to search for structural chromosomal variants (SV) or copy number variants (CNV) not identifiable either by cytogenetic methods nor by "short read" NGS "short read, in individuals with oral-facial clefts with no genetic diagnosis.
Study Overview
Status
Intervention / Treatment
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Benedicte Demeer, MD
- Phone Number: 33+322087581
- Email: Demeer.Benedicte@chu-amiens.fr
Study Locations
-
-
-
Amiens, France, 80480
- Recruiting
- CHRU Amiens
-
Contact:
- Benedicte Demeer, MD
- Phone Number: 33+322087581
- Email: Demeer.Benedicte@chu-amiens.fr
-
Sub-Investigator:
- Emilien Colin, MD
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Description
Inclusion Criteria:
- Individuals with syndromic, complex or familial oral-facial clefts
- With no established genetic diagnosis
- Followed up at the Amiens-Picardie University Hospital
Exclusion Criteria:
- genetic diagnosis of oral-facial cleft
- No health insurance affiliation
- Patient under guardianship or curatorship, under safeguard of justice or deprived under public law
- Pregnant, parturient or breast-feeding woman
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Other
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
|---|---|
|
Experimental: patients with syndromic, familial or complex orofacial clefts
|
blood withdrawal for genetic testing
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Identification of a structural chromosomal variant
Time Frame: 2 years
|
Identification of a structural chromosomal variant involved in the genesis of orofacial clefts by studying the genetic characteristics of individuals with orofacial clefts.
|
2 years
|
Collaborators and Investigators
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Estimated)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Other Study ID Numbers
- PI2023_843_0023
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
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