NCT03810859

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

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 14 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 4 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Amelogenesis Imperfecta
• Dentinogenesis Imperfecta
• Dentin Anomalies

Interventions

Type	Name	Description
BIOLOGICAL	Blood sample	Adults : 7 to 10 mL Childs : 2 to 4 mL

Timeline

• Start date: 2019-10-09
• Primary completion: 2022-09-15
• Completion: 2022-09-15
• First posted: 2019-01-22
• Last updated: 2021-11-22

Locations

1 site across 1 country: France