Optical genome mapping to find genetic causes of congenital orofacial clefts
Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping
This will test whether optical genome mapping on a blood sample can find structural genetic changes in people with syndromic, complex, or familial orofacial clefts who do not yet have a genetic diagnosis.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 26 (estimated) |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire, Amiens Academic / other |
| Locations | 1 site (Amiens) |
| Trial ID | NCT06880094 on ClinicalTrials.gov |
What this trial studies
The study uses optical genome mapping (OGM), a high-resolution long-read method, alongside existing genetic information to search for structural variants (SVs) and copy-number variants (CNVs) that may explain congenital orofacial clefts. Participants provide a blood sample for OGM, which can directly visualize long labeled DNA molecules across the genome. This approach aims to detect variants that are missed by standard cytogenetics and short-read next-generation sequencing (NGS). Patients are recruited from the Amiens-Picardie University Hospital and must meet the study's inclusion and exclusion criteria.
Who should consider this trial
Good fit: Ideal candidates are people with syndromic, complex, or familial orofacial clefts who have no established genetic diagnosis and who are followed at the Amiens-Picardie University Hospital.
Not a fit: People who already have a confirmed genetic diagnosis of their cleft, those who are pregnant or breastfeeding, under legal guardianship or without health insurance are excluded and would not benefit from participation.
Why it matters
Potential benefit: If successful, the method could provide a genetic diagnosis for some patients, improving genetic counseling and clinical decision-making.
How similar studies have performed: OGM has shown promise in other constitutional and cancer genetics for detecting SVs missed by cytogenetics and short-read NGS, but its targeted application to orofacial clefts is relatively new.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Amiens
- CHRU Amiens — Amiens, France (Recruiting)
Study contacts
- Study coordinator: Bénédicte DEMEER, MD
- Email: Demeer.Benedicte@chu-amiens.fr
- Phone: 33+322087581
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.