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

Primary Purpose

Amelogenesis Imperfecta, Dentinogenesis Imperfecta, Dentin Anomalies

Status

Active

Phase

Not Applicable

Locations

France

Study Type

Interventional

Intervention

Blood sample

About this trial

This is an interventional basic science trial for Amelogenesis Imperfecta focused on measuring Amelogenesis imperfecta, Dentinogenesis imperfecta, Dentin anomalies, Whole Exome Study

Eligibility Criteria

4 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

Hospital Cochin

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

All patients

Arm Description

Blood sample

Outcomes

Primary Outcome Measures

Genome sequencing

Pathogenic variants identification and qualification

Secondary Outcome Measures

Full Information

NCT ID

NCT03810859

First Posted

January 17, 2019

Last Updated

November 19, 2021

Sponsor

Assistance Publique - Hôpitaux de Paris

Collaborators

French rare diseases Healthcare Network, The French Foundation for Rare Diseases

1. Study Identification

Unique Protocol Identification Number

NCT03810859

Brief Title

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

Acronym

EXODENT

Official Title

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

Study Type

Interventional

2. Study Status

Record Verification Date

November 2021

Overall Recruitment Status

Active, not recruiting

Study Start Date

October 9, 2019 (Actual)

Primary Completion Date

September 15, 2022 (Anticipated)

Study Completion Date

September 15, 2022 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

Assistance Publique - Hôpitaux de Paris

Collaborators

French rare diseases Healthcare Network, The French Foundation for Rare Diseases

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Studies a U.S. FDA-regulated Device Product

Data Monitoring Committee

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Amelogenesis Imperfecta, Dentinogenesis Imperfecta, Dentin Anomalies

Keywords

Amelogenesis imperfecta, Dentinogenesis imperfecta, Dentin anomalies, Whole Exome Study

7. Study Design

Primary Purpose

Basic Science

Study Phase

Not Applicable

Interventional Study Model

Single Group Assignment

Masking

None (Open Label)

Allocation

N/A

Enrollment

14 (Actual)

8. Arms, Groups, and Interventions

Arm Title

All patients

Arm Type

Experimental

Arm Description

Blood sample

Intervention Type

Biological

Intervention Name(s)

Blood sample

Intervention Description

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

Primary Outcome Measure Information:

Title

Genome sequencing

Description

Pathogenic variants identification and qualification

Time Frame

After one day

10. Eligibility

Sex

All

Minimum Age & Unit of Time

4 Years

Accepts Healthy Volunteers

Eligibility Criteria

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

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Céline GAUCHER, MD

Organizational Affiliation

APHP

Official's Role

Principal Investigator

Facility Information:

Facility Name

Hospital Cochin

City

Paris

ZIP/Postal Code

75014

Country

France

12. IPD Sharing Statement

Plan to Share IPD

Learn more about this trial

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

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