NCT03810859

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
14

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Oct 2019

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 17, 2019

Completed
5 days until next milestone

First Posted

Study publicly available on registry

January 22, 2019

Completed
9 months until next milestone

Study Start

First participant enrolled

October 9, 2019

Completed
2.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 15, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 15, 2022

Completed
Last Updated

November 22, 2021

Status Verified

November 1, 2021

Enrollment Period

2.9 years

First QC Date

January 17, 2019

Last Update Submit

November 19, 2021

Conditions

Amelogenesis ImperfectaDentinogenesis ImperfectaDentin Anomalies

Keywords

Amelogenesis imperfectaDentinogenesis imperfectaDentin anomaliesWhole Exome Study

Outcome Measures

Primary Outcomes (1)

  • Genome sequencing

    Pathogenic variants identification and qualification

    After one day

Study Arms (1)

All patients

EXPERIMENTAL

Blood sample

Biological: Blood sample

Interventions

Blood sampleBIOLOGICAL

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

All patients

Eligibility Criteria

Age4 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • absence of positive clinical diagnosis
  • Diagnosis of syndromic disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hospital Cochin

Paris, 75014, France

Location

MeSH Terms

Conditions

Amelogenesis ImperfectaDentinogenesis Imperfecta

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Developmental Defects of EnamelTooth AbnormalitiesStomatognathic System AbnormalitiesStomatognathic DiseasesTooth DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Céline GAUCHER, MD

    APHP

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 17, 2019

First Posted

January 22, 2019

Study Start

October 9, 2019

Primary Completion

September 15, 2022

Study Completion

September 15, 2022

Last Updated

November 22, 2021

Record last verified: 2021-11

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)