Clinical Research Directory
Browse clinical research sites, groups, and studies.
Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
Sponsor: Assistance Publique - Hôpitaux de Paris
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.
Key Details
Gender
All
Age Range
4 Years - Any
Study Type
INTERVENTIONAL
Enrollment
14
Start Date
2019-10-09
Completion Date
2021-09-15
Last Updated
2026-07-20
Healthy Volunteers
No
Interventions
Blood sample
Adults : 7 to 10 mL Childs : 2 to 4 mL
Locations (1)
Hospital Cochin
Paris, France, France