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

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.

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Key information

Conditions

Amelogenesis Imperfecta Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dentin Anomalies Dentinogenesis Imperfecta Developmental Defects of Enamel Stomatognathic Diseases Stomatognathic System Abnormalities Tooth Abnormalities Tooth Diseases

Age range

4 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hospital Cochin

Paris, France, 75014

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

clinical diagnosis of amelogenesis imperfecta or dentinogenesis imerfecta or other dentin anomaly with no other signs or symptoms ( familial or isolated)
negative results after targeted NGS strategy for molecular diagnosis

Exclusion criteria

absence of positive clinical diagnosis
Diagnosis of syndromic disease

Treatment and study plan

Blood sample

Biological

Adults : 7 to 10 mL Childs : 2 to 4 mL

Primary outcomes

Genome sequencing

Time frame: After one day

Pathogenic variants identification and qualification

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Collaborators

French rare diseases Healthcare Network
The French Foundation for Rare Diseases
URC-CIC Paris Descartes Necker Cochin

Registry information

Acronym: EXODENT

Important dates

Study start: 2019
Primary completion: 2021
Study completion: 2021
First posted: Jan 22, 2019
Registry last updated: Jul 20, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed