Finding genetic causes of cleft lip and palate using whole exome sequencing

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

Researchers will perform whole exome sequencing (WES) on precisely phenotyped patients with non‑syndromic cleft lip and/or palate who are followed at the CHU Amiens Picardie multidisciplinary center. Eligible participants are those with NSCL/P of unknown cause who hold national health insurance, while cases with a known genetic cause or an IRF6 mutation are excluded. The project searches for rare or novel coding variants that may explain individual cases or reveal new disease genes, building on prior WES successes in craniofacial syndromes. Candidate variants will be interpreted alongside clinical phenotype and existing gene pathway knowledge to prioritize findings for follow‑up.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Subject with a NSCL/P or CL/P of unknown etiology,
* national health care insurance holders

Exclusion Criteria:

* Subject with a CL/P of known etiology,
* Subject with a NSCL/P and an IRF6 mutation

Where it's running

• CHU Amiens Picardie
  Amiens, France Recruiting

Study contacts

• Principal investigator: Bénédicte DEMEER, MD — CHU Amiens
• Study coordinator: Bénédicte DEMEER, MD
• Email: demeer.benedicte@chu-amiens.fr
• Phone: +33 3 22 08 75 81

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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.