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

NCT03810859 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 14

Last updated 2021-11-22

No results posted yet for this study

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.

Conditions

  • Amelogenesis Imperfecta
  • Dentinogenesis Imperfecta
  • Dentin Anomalies

Interventions

BIOLOGICAL

Blood sample

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

Sponsors & Collaborators

  • French rare diseases Healthcare Network

    collaborator UNKNOWN

  • The French Foundation for Rare Diseases

    collaborator UNKNOWN

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Céline GAUCHER, MD · APHP

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
4 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-10-09
Primary Completion
2022-09-15
Completion
2022-09-15

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03810859 on ClinicalTrials.gov