An interventional study of blood withdrawal in Orofacial Clefts, Next Generation Sequencing (NGS) and Optical Genome Mapping, sponsored by Centre Hospitalier Universitaire, Amiens. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2026-01-16.
Sponsored by Centre Hospitalier Universitaire, Amiens · Not applicable, Interventional, and Other
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.
Centre Hospitalier Universitaire, Amiens is the lead sponsor of 576 studies on the registry; 178 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Exclusion Criteria:
Genetic: blood withdrawal
blood withdrawal for genetic testing
Identification of a structural chromosomal variant
Identification of a structural chromosomal variant involved in the genesis of orofacial clefts by studying the genetic characteristics of individuals with orofacial clefts.
Time frame: 2 years
Plan to share: No
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Centre Hospitalier Universitaire, Amiens