Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping

Not Applicable

Not yet recruiting

• Conditions: Orofacial Clefts; Next Generation Sequencing (NGS); Optical Genome Mapping

• Registration Number: NCT06880094
• Lead Sponsor: Centre Hospitalier Universitaire, Amiens

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2025-03
• Study First Submitted: 2025-03-11
• Study First Submitted QC: 2025-03-11
• Last Update Submitted: 2025-03-11
• Study First Posted: 2025-03-17
• Last Update Posted: 2025-03-17
• Study Start: 2025-04
• Primary Completion: 2027-04
• Study Completion: 2027-04

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 26

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Identification of a structural chromosomal variant	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.

Trial Locations

Locations (1)

CHRU Amiens; 🇫🇷 Amiens, France