Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping

NCT06880094 | Recruiting DMC

• 1 other identifier: PI2023_843_0023
• Study Type: interventional
• Target: 26
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

orofacial clefts; Next Generation Sequencing; Optical Genome Mapping

Outcome Measures

Primary Outcomes (1)

• 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.

  2 years

Study Arms (1)

patients with syndromic, familial or complex orofacial clefts

EXPERIMENTAL

Genetic: blood withdrawal

Interventions

blood withdrawal GENETIC

blood withdrawal for genetic testing

patients with syndromic, familial or complex orofacial clefts

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

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

Sponsors & Collaborators

• Centre Hospitalier Universitaire, Amiens: lead

Study Sites (1)

CHRU Amiens

Amiens, 80480, France

RECRUITING

Central Study Contacts

Bénédicte DEMEER, MD

CONTACT

33+322087581; Demeer.Benedicte@chu-amiens.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 11, 2025
• First Posted: March 17, 2025
• Study Start: February 18, 2025
• Primary Completion (Estimated): April 1, 2027
• Study Completion (Estimated): April 1, 2027
• Last Updated: January 16, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)