Ignite Creation Date:
2025-12-25 @ 1:45 AM
Ignite Modification Date:
2025-12-27 @ 11:07 PM
Study NCT ID:
NCT06880094
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-03-17
First Post:
2025-03-11
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping
Sponsor:
Centre Hospitalier Universitaire, Amiens
Organization:
Study Overview
Official Title:
Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping
Status:
NOT_YET_RECRUITING
Status Verified Date:
2025-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
CARTOFENTE
Brief Summary:
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.
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.
Detailed Description:
None
Study Oversight
Has Oversight DMC:
True
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
False
Is an FDA AA801 Violation?: