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

NCT ID: NCT03810859

Last Updated: 2021-11-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Clinical Phase

NA

Total Enrollment

14 participants

Study Classification

INTERVENTIONAL

Study Start Date

2019-10-09

Study Completion Date

2022-09-15

Brief Summary

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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.

Detailed Description

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Conditions

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Amelogenesis Imperfecta Dentinogenesis Imperfecta Dentin Anomalies

Keywords

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Amelogenesis imperfecta Dentinogenesis imperfecta Dentin anomalies Whole Exome Study

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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All patients

Blood sample

Group Type EXPERIMENTAL

Blood sample

Intervention Type BIOLOGICAL

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

Interventions

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Blood sample

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

Intervention Type BIOLOGICAL

Eligibility Criteria

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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
Minimum Eligible Age

4 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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French rare diseases Healthcare Network

UNKNOWN

Sponsor Role collaborator

The French Foundation for Rare Diseases

UNKNOWN

Sponsor Role collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Céline GAUCHER, MD

Role: PRINCIPAL_INVESTIGATOR

APHP

Locations

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Hospital Cochin

Paris, , France

Site Status

Countries

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France

Other Identifiers

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2018-A01250-55

Identifier Type: OTHER

Identifier Source: secondary_id

K180404J

Identifier Type: -

Identifier Source: org_study_id