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Dentinogenesis Imperfecta clinical trials

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NCT ID: NCT03810859 Active, not recruiting - Clinical trials for Amelogenesis Imperfecta

Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants

EXODENT
Start date: October 9, 2019
Phase: N/A
Study type: Interventional

ExoDent specifically aims to discover new genes and new mutations causing isolated amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) and other dentin anomalies. The key point for clinicians is to distinguish between non syndromic and syndromic disorders in order to improve patients guidance and counseling. To do so, two targeted NGS panel have been designed, one searching for isolated AI and the other for DI. After 18 months, some families remain without any positive results. ExoDent project proposes those negative patients a Whole Exome Sequencing (WES) approach to deeper explore their genetic background.