- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03810859
Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants (EXODENT)
November 19, 2021 updated by: Assistance Publique - Hôpitaux de Paris
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.
Study Overview
Status
Active, not recruiting
Intervention / Treatment
Study Type
Interventional
Enrollment (Actual)
14
Phase
- Not Applicable
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
-
-
Paris, France, 75014
- Hospital Cochin
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
4 years and older (Child, Adult, Older Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Description
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
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Primary Purpose: Basic Science
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: All patients
Blood sample
|
Adults : 7 to 10 mL Childs : 2 to 4 mL
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Genome sequencing
Time Frame: After one day
|
Pathogenic variants identification and qualification
|
After one day
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Investigators
- Principal Investigator: Céline GAUCHER, MD, APHP
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
October 9, 2019
Primary Completion (Anticipated)
September 15, 2022
Study Completion (Anticipated)
September 15, 2022
Study Registration Dates
First Submitted
January 17, 2019
First Submitted That Met QC Criteria
January 17, 2019
First Posted (Actual)
January 22, 2019
Study Record Updates
Last Update Posted (Actual)
November 22, 2021
Last Update Submitted That Met QC Criteria
November 19, 2021
Last Verified
November 1, 2021
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- K180404J
- 2018-A01250-55 (Other Identifier: ID-RCB)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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