Hunting for hidden genes behind tooth defects
NCT ID NCT03810859
First seen Jul 20, 2026 · Last updated Jul 21, 2026 · Updated 1 time
Summary
This study aims to discover new genes and mutations that cause isolated forms of amelogenesis imperfecta and dentinogenesis imperfecta—inherited conditions that affect tooth enamel and dentin. Researchers are using whole exome sequencing on participants who have these tooth disorders but no other health issues, and who previously tested negative on standard genetic panels. The goal is to improve diagnosis and help doctors distinguish between isolated tooth problems and syndromes that affect other parts of the body.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- If successful, this could identify new genetic causes of isolated tooth defects, leading to better diagnostic tests and more precise genetic counseling for affected families.
- What could go wrong
- This is a small, early-stage genetic discovery study. It may not find new genes, and any findings would need further validation before they can be used in clinical practice.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Locations
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Hospital Cochin
Paris, France, 75014, France
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