Amelogenesis Imperfecta, Dentin Anomalies, Dentinogenesis Imperfecta
Conditions
Keywords
Amelogenesis imperfecta, Dentinogenesis imperfecta, Dentin anomalies, Whole Exome Study
Brief 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.
Interventions
BIOLOGICALBlood sample
Adults : 7 to 10 mL Childs : 2 to 4 mL
Sponsors
Assistance Publique - Hôpitaux de Paris
French rare diseases Healthcare Network
The French Foundation for Rare Diseases
URC-CIC Paris Descartes Necker Cochin
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
4 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genome sequencing | After one day | Pathogenic variants identification and qualification |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORCéline GAUCHER, MD
APHP
Outcome results
None listed