<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/NCT03239002</url>
  </required_header>
  <id_info>
    <org_study_id>2010_24</org_study_id>
    <secondary_id>2011-A00105-36</secondary_id>
    <nct_id>NCT03239002</nct_id>
  </id_info>
  <brief_title>Antenatal Detection by Array CGH Genomic Rearrangements Unbalanced Front Uninsulated Thick Neck or a Combination of Two Signs of Ultrasound Calling Normal Karyotype</brief_title>
  <acronym>CGH Array</acronym>
  <official_title>Antenatal Detection by Array CGH Genomic Rearrangements Unbalanced Front Uninsulated Thick Neck or a Combination of Two Signs of Ultrasound Calling Normal Karyotype</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Lille</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Ministry of Health, France</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>University Hospital, Lille</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>
      This is the first study with a real diagnostic and prognostic focus in prenatal. In addition&#xD;
      to this innovative aspect, the identification of cryptic imbalances in fetuses with&#xD;
      malformative syndrome would be an invaluable resource for the identification of new genes&#xD;
      involved in development, as is already the case for postnatal studies.&#xD;
&#xD;
      This research aims to:&#xD;
&#xD;
        1. to test the feasibility of this protocol, ie the practical application of this new&#xD;
           technology in the context of prenatal diagnosis,&#xD;
&#xD;
        2. demonstrate and evaluate the possible involvement of cryptic chromosomal abnormalities&#xD;
           in fetuses with a thick neck associated with other malformations and recruited on the&#xD;
           strict criteria mentioned above,&#xD;
&#xD;
        3. assist in the diagnosis of these fetuses and genetic information for their families,&#xD;
&#xD;
        4. identify new regions of the genome potentially involved in the occurrence of congenital&#xD;
           malformations.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date>July 2011</start_date>
  <completion_date type="Actual">September 2017</completion_date>
  <primary_completion_date type="Actual">September 2017</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Number of patient with Ultrasound call signs (thick neck and / or any other organ concerned)</measure>
    <time_frame>During the first trimester of pregnancy</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>CGH-array analysis</measure>
    <time_frame>During the first trimester of pregnancy</time_frame>
    <description>CGH-array result: normal, deletion or duplication, de novo or inherited, size, type and number of genes involved</description>
  </secondary_outcome>
  <enrollment type="Actual">200</enrollment>
  <condition>Abnormality of the Neck</condition>
  <condition>Fetus; Abnormal, Affecting Management of Pregnancy</condition>
  <eligibility>
    <study_pop>
      <textblock>
        the parturients aged 18 to 45 years for whom a karyotype performed from a trophoblast&#xD;
        biopsy or amniotic fluid puncture is normal or apparently balanced&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  a karyotype performed from a trophoblast biopsy or an amniotic fluid puncture is&#xD;
             normal or apparently balanced.&#xD;
&#xD;
          -  The fetuses included in the study should have one of the following two criteria:&#xD;
&#xD;
          -  1) Thick bone (greater than 99th percentile, between week 11 and week 13 of&#xD;
             amenorrhoea plus 6 days, correlated to a cranio-caudal length measured between 45 and&#xD;
             84 mm) detected in the first trimester of pregnancy associated with One or more&#xD;
             echographic sign (s).&#xD;
&#xD;
          -  2) At least two ultrasound call signs involving the following organs (heart, kidney,&#xD;
             brain, limbs, digestive tract, face) or intrauterine growth retardation (less than 3rd&#xD;
             percentile) associated with one of these Signs of appeal.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  The parturientes in emergency situation,&#xD;
&#xD;
          -  Benefiting from a legal protection (guardianship / curatorship)&#xD;
      </textblock>
    </criteria>
    <gender>Female</gender>
    <gender_based>Yes</gender_based>
    <gender_description>200 parturientes aged 18 to 45 years</gender_description>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>45 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Véronique HOUFFLIN-DEBARGE, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University Hospital, Lille</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Hôpital Jeanne de Flandre - CHRU de Lille</name>
      <address>
        <city>Lille</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>January 2018</verification_date>
  <study_first_submitted>July 31, 2017</study_first_submitted>
  <study_first_submitted_qc>August 1, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">August 3, 2017</study_first_posted>
  <last_update_submitted>January 29, 2018</last_update_submitted>
  <last_update_submitted_qc>January 29, 2018</last_update_submitted_qc>
  <last_update_posted type="Actual">January 30, 2018</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <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/NCT03239002
org study id: 2010_24
secondary id: 2011-A00105-36
nct id: NCT03239002
lead sponsor: 
collaborator: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
This is the first study with a real diagnostic and prognostic focus in prenatal. In addition
      to this innovative aspect, the identification of cryptic imbalances in fetuses with
      malformative syndrome would be an invaluable resource for the identification of new genes
      involved in development, as is already the case for postnatal studies.

      This research aims to:

        1. to test the feasibility of this protocol, ie the practical application of this new
           technology in the context of prenatal diagnosis,

        2. demonstrate and evaluate the possible involvement of cryptic chromosomal abnormalities
           in fetuses with a thick neck associated with other malformations and recruited on the
           strict criteria mentioned above,

        3. assist in the diagnosis of these fetuses and genetic information for their families,

        4. identify new regions of the genome potentially involved in the occurrence of congenital
           malformations.
observational model: Cohort
time perspective: Prospective
measure: Number of patient with Ultrasound call signs (thick neck and / or any other organ concerned)
time frame: During the first trimester of pregnancy
measure: CGH-array analysis
time frame: During the first trimester of pregnancy
description: CGH-array result: normal, deletion or duplication, de novo or inherited, size, type and number of genes involved
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: Female
gender based: Yes
gender description: 200 parturientes aged 18 to 45 years
minimum age: 18 Years
maximum age: 45 Years
healthy volunteers: No
last name: Véronique HOUFFLIN-DEBARGE, MD, PhD
role: Principal Investigator
affiliation: University Hospital, Lille
facility: 
country: France
responsible party type: Sponsor
mesh term: Congenital Abnormalities
sharing ipd: No