Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping

Recruiting now · Not applicable

Conditions studied: Orofacial Clefts, Next Generation Sequencing (NGS), Optical Genome Mapping

In brief

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.

Key facts

Study ID

NCT06880094

Run by

Centre Hospitalier Universitaire, Amiens

People needed

26

Starts

2025-02-18

Expected to finish

2027-04-01

Last updated by the study team

2026-01-16

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Individuals with syndromic, complex or familial oral-facial clefts
• With no established genetic diagnosis
• Followed up at the Amiens-Picardie University Hospital

You may not qualify if…

• 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

Where it is running

• CHRU Amiens — Amiens, France (enrolling)

Full record on ClinicalTrials.gov

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