Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping

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.

NCT Number	NCT06880094
Lead Sponsor	Centre Hospitalier Universitaire, Amiens
Conditions	Orofacial Clefts, Next Generation Sequencing (NGS), Optical Genome Mapping
Enrollment	26 participants
Start Date	2025-02-18
Primary Completion	2027-04 (estimated)
Study Completion	2027-04 (estimated)
Updated on ClinicalTrials.gov	2026-01-16