<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03810859</url>
  </required_header>
  <id_info>
    <org_study_id>K180404J</org_study_id>
    <secondary_id>2018-A01250-55</secondary_id>
    <nct_id>NCT03810859</nct_id>
  </id_info>
  <brief_title>Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants</brief_title>
  <acronym>EXODENT</acronym>
  <official_title>Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Assistance Publique - Hôpitaux de Paris</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>French rare diseases Healthcare Network</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>The French Foundation for Rare Diseases</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Assistance Publique - Hôpitaux de Paris</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      ExoDent specifically aims to discover new genes and new mutations causing isolated&#xD;
      amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) and other dentin anomalies.&#xD;
      The key point for clinicians is to distinguish between non syndromic and syndromic disorders&#xD;
      in order to improve patients guidance and counseling. To do so, two targeted NGS panel have&#xD;
      been designed, one searching for isolated AI and the other for DI. After 18 months, some&#xD;
      families remain without any positive results. ExoDent project proposes those negative&#xD;
      patients a Whole Exome Sequencing (WES) approach to deeper explore their genetic background.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Active, not recruiting</overall_status>
  <start_date type="Actual">October 9, 2019</start_date>
  <completion_date type="Anticipated">September 15, 2022</completion_date>
  <primary_completion_date type="Anticipated">September 15, 2022</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>N/A</allocation>
    <intervention_model>Single Group Assignment</intervention_model>
    <primary_purpose>Basic Science</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Genome sequencing</measure>
    <time_frame>After one day</time_frame>
    <description>Pathogenic variants identification and qualification</description>
  </primary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Actual">14</enrollment>
  <condition>Amelogenesis Imperfecta</condition>
  <condition>Dentinogenesis Imperfecta</condition>
  <condition>Dentin Anomalies</condition>
  <arm_group>
    <arm_group_label>All patients</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>Blood sample</description>
  </arm_group>
  <intervention>
    <intervention_type>Biological</intervention_type>
    <intervention_name>Blood sample</intervention_name>
    <description>Adults : 7 to 10 mL Childs : 2 to 4 mL</description>
    <arm_group_label>All patients</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  clinical diagnosis of amelogenesis imperfecta or dentinogenesis imerfecta or other&#xD;
             dentin anomaly with no other signs or symptoms ( familial or isolated)&#xD;
&#xD;
          -  negative results after targeted NGS strategy for molecular diagnosis&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  absence of positive clinical diagnosis&#xD;
&#xD;
          -  Diagnosis of syndromic disease&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>4 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Céline GAUCHER, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>APHP</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Hospital Cochin</name>
      <address>
        <city>Paris</city>
        <zip>75014</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>November 2021</verification_date>
  <study_first_submitted>January 17, 2019</study_first_submitted>
  <study_first_submitted_qc>January 17, 2019</study_first_submitted_qc>
  <study_first_posted type="Actual">January 22, 2019</study_first_posted>
  <last_update_submitted>November 19, 2021</last_update_submitted>
  <last_update_submitted_qc>November 19, 2021</last_update_submitted_qc>
  <last_update_posted type="Actual">November 22, 2021</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Amelogenesis imperfecta</keyword>
  <keyword>Dentinogenesis imperfecta</keyword>
  <keyword>Dentin anomalies</keyword>
  <keyword>Whole Exome Study</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Amelogenesis Imperfecta</mesh_term>
    <mesh_term>Dentinogenesis Imperfecta</mesh_term>
    <mesh_term>Congenital Abnormalities</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03810859
org study id: K180404J
secondary id: 2018-A01250-55
nct id: NCT03810859
lead sponsor: 
collaborator: 
collaborator: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
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.
allocation: N/A
intervention model: Single Group Assignment
primary purpose: Basic Science
masking: None (Open Label)
measure: Genome sequencing
time frame: After one day
description: Pathogenic variants identification and qualification
arm group label: All patients
arm group type: Experimental
description: Blood sample
intervention type: Biological
intervention name: Blood sample
description: Adults : 7 to 10 mL Childs : 2 to 4 mL
arm group label: All patients
criteria: 
gender: All
minimum age: 4 Years
maximum age: N/A
healthy volunteers: No
last name: Céline GAUCHER, MD
role: Principal Investigator
affiliation: APHP
facility: 
country: France
responsible party type: Sponsor
mesh term: Amelogenesis Imperfecta
mesh term: Dentinogenesis Imperfecta
mesh term: Congenital Abnormalities
sharing ipd: No