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

Amelogenesis Imperfecta Clinical Trial

— EXODENT  

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03810859
• Other study ID #: K180404J
• Secondary ID: 2018-A01250-55
• Status: Active, not recruiting
• Phase: N/A
• Start date: October 9, 2019
• Est. completion date: September 15, 2022

Study information

• Verified date: November 2021
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 14
• Est. completion date: September 15, 2022
• Est. primary completion date: September 15, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 4 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Amelogenesis Imperfecta
• Congenital Abnormalities
• Dentin Anomalies
• Dentinogenesis Imperfecta

Intervention

Biological:
• Blood sample
Adults : 7 to 10 mL Childs : 2 to 4 mL

Locations

Country	Name	City	State
France	Hospital Cochin	Paris

Sponsors (3)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris	French rare diseases Healthcare Network, The French Foundation for Rare Diseases

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genome sequencing	Pathogenic variants identification and qualification	After one day