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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03810859
Recruitment Status : Not yet recruiting
First Posted : January 21, 2019
Last Update Posted : July 19, 2019
Foundation Maladie Rare
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

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.

Condition or disease Intervention/treatment Phase
Amelogenesis Imperfecta Dentinogenesis Imperfecta Dentin Anomalies Biological: Blood sample Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 60 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
Estimated Study Start Date : September 2019
Estimated Primary Completion Date : July 2020
Estimated Study Completion Date : December 2020

Arm Intervention/treatment
Experimental: All patients
Blood sample
Biological: Blood sample
Adults : 7 to 10 mL Childs : 2 to 4 mL

Primary Outcome Measures :
  1. Genome sequencing [ Time Frame: After one day ]
    Pathogenic variants identification and qualification

Information from the National Library of Medicine

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Ages Eligible for Study:   4 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03810859

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Contact: Céline GAUCHER, MD (33)1 58 41 12 17
Contact: Caroline TOURTE (33)1 58 41 11 90

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Hospital Cochin Recruiting
Paris, France, 75014
Contact: Céline GAUCHER, MD    (33)1 58 4112 17   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Foundation Maladie Rare
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Principal Investigator: Céline GAUCHER, MD APHP

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Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT03810859     History of Changes
Other Study ID Numbers: K180404J
2018-A01250-55 ( Other Identifier: ID-RCB )
First Posted: January 21, 2019    Key Record Dates
Last Update Posted: July 19, 2019
Last Verified: July 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Assistance Publique - Hôpitaux de Paris:
Amelogenesis imperfecta
Dentinogenesis imperfecta
Dentin anomalies
Whole Exome Study
Additional relevant MeSH terms:
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Amelogenesis Imperfecta
Dentinogenesis Imperfecta
Congenital Abnormalities
Dental Enamel Hypoplasia
Tooth Abnormalities
Stomatognathic System Abnormalities
Stomatognathic Diseases
Tooth Diseases