An interventional study of Blood sample in Amelogenesis Imperfecta, Dentinogenesis Imperfecta and Dentin Anomalies, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged 4 Years and older. Per ClinicalTrials.gov, last updated 2026-07-20.
Sponsored by Assistance Publique - Hôpitaux de Paris · Not applicable, Interventional, and Basic science
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.
Exclusion Criteria:
Blood sample
Biological: Blood sample
Adults : 7 to 10 mL Childs : 2 to 4 mL
Genome sequencing
Pathogenic variants identification and qualification
Time frame: After one day
Plan to share: No
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Amelogenesis Imperfecta
Assistance Publique - Hôpitaux de Paris