Optical genome mapping to find genetic causes of congenital orofacial clefts

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• CHRU Amiens
  Amiens, France Recruiting

Study contacts

• Study coordinator: Bénédicte DEMEER, MD
• Email: Demeer.Benedicte@chu-amiens.fr
• Phone: 33+322087581

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.