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

Amelogenesis Imperfecta Clinical Trial

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

Status Active, not recruiting

Clinical Trial Summary

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.

Clinical Trial Description

n/a

Related Conditions & MeSH terms

• Amelogenesis Imperfecta
• Congenital Abnormalities
• Dentin Anomalies
• Dentinogenesis Imperfecta

• NCT number: NCT03810859
• Study type: Interventional
• Source: Assistance Publique - Hôpitaux de Paris
• Status: Active, not recruiting
• Phase: N/A
• Start date: October 9, 2019
• Completion date: September 15, 2022