<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/NCT01687842</url>
  </required_header>
  <id_info>
    <org_study_id>P110911</org_study_id>
    <secondary_id>ID RCB 2012-A00488-35</secondary_id>
    <nct_id>NCT01687842</nct_id>
  </id_info>
  <brief_title>Social Cognition and Turner Syndrome</brief_title>
  <acronym>COGNITUR</acronym>
  <official_title>Social Cognition and Turner Syndrome</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Assistance Publique - Hôpitaux de Paris</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Assistance Publique - Hôpitaux de Paris</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Monocentric multidisciplinary study (psychologists, endocrinologists, psychiatrists, and&#xD;
      molecular biologists) to characterize social cognition in adolescents with Turner syndrome&#xD;
      (TS).&#xD;
&#xD;
      Inclusion criteria:&#xD;
&#xD;
        -  Turner syndrome with homogeneous 45,X karyotype.&#xD;
&#xD;
        -  Age between 8 and 18 years.&#xD;
&#xD;
        -  Somatic state compatible with the evaluation.&#xD;
&#xD;
        -  Functional language and IQ ≥ 80 for the transfer tests&#xD;
&#xD;
        -  Informed consent signed by the holders of parental authority, the patient and the mother&#xD;
           for her own participation (DNA collection).&#xD;
&#xD;
        -  Affiliation to Social Security (beneficiary or assignee).&#xD;
&#xD;
      The primary endpoint will be the overall score to the AQ (Autism Quotient) questionnaire and&#xD;
      to the SRS (Social Reciprocity Scale), in comparison to the expected scores for the general&#xD;
      population. For patients with scores above the threshold for SRS or QA validation of a&#xD;
      possible diagnosis of autism spectrum disorders will be performed with commonly used&#xD;
      diagnostic tools (ADIR (Lord et al, 1994), ADOS-G (Lord et al, 1999) and diagnostic criteria&#xD;
      of DSM IV-TR).&#xD;
&#xD;
      Secondary criteria will include the results of standardized tests to assess autistic features&#xD;
      (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric&#xD;
      comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition,&#xD;
      Perception, eXecutive functions).&#xD;
&#xD;
      A DNA sample will be collected from the patient and her mother. The observation period is 2&#xD;
      days for the patient and about 1 hour for the mother. The total duration of the study is 3&#xD;
      years.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Patients will be recruited to the study by their pediatric endocrinologist during routine&#xD;
      monitoring visits. They will then be contacted by phone or by mail for an appointment with&#xD;
      their mother for more oral and written information consisting of an information notice and&#xD;
      informed consent form. The recruitment of Turner syndrome patients will be based on the&#xD;
      Reference Centre for Rare Endocrine Growth Disorders (AP-HP, Robert Debré, Armand Trousseau&#xD;
      and Necker hospitals).&#xD;
&#xD;
      The parental origin of the remaining X chromosome will be analyzed using microsatellite&#xD;
      analysis and comparison of the profile of the patient and her mother.&#xD;
&#xD;
      Statistical analysis will be conducted under the supervision of Professor C. ALBERTI using&#xD;
      commonly accepted standards. All tests will be bilateral. Given the exploratory nature of the&#xD;
      study, a significance threshold of 10% will be used. Statistical analyzes will be performed&#xD;
      using SAS software V 9.2.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">March 2013</start_date>
  <completion_date type="Actual">March 2017</completion_date>
  <primary_completion_date type="Actual">March 2017</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Family-Based</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Overall score to the AQ (Autism Quotient) questionnaire.</measure>
    <time_frame>2 days</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population.</measure>
    <time_frame>2 days</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>Socio-cognitive profile and parent of origin of the intact X chromosome</measure>
    <time_frame>2 days</time_frame>
    <description>Results of standardized tests to assess autistic features (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition, Perception, eXecutive functions).&#xD;
Parent of origin of the intact X chromosome and its relationship to the autistic features.</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">25</enrollment>
  <condition>Turner Syndrome</condition>
  <arm_group>
    <arm_group_label>Turner syndrome patients</arm_group_label>
    <description>Evaluation of 45,X Turner syndrome patients</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Evaluation of 45,X Turner syndrome patients</intervention_name>
    <description>Evaluation of 45,X Turner syndrome patients</description>
    <arm_group_label>Turner syndrome patients</arm_group_label>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Buccal DNA samples will be collected in the patient and her mother&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Turner syndrome patients&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion criteria:&#xD;
&#xD;
          -  Turner syndrome with homogeneous 45,X karyotype.&#xD;
&#xD;
          -  Age between 8 and 18 years.&#xD;
&#xD;
          -  Somatic state compatible with the evaluation.&#xD;
&#xD;
          -  Functional language and IQ ≥ 80 for the transfer tests&#xD;
&#xD;
          -  Informed consent signed by the holders of parental authority, the patient and the&#xD;
             mother for her own participation (DNA collection).&#xD;
&#xD;
          -  Affiliation to Social Security (beneficiary or assignee).&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Additional condition associated with an autism spectrum disorder&#xD;
&#xD;
          -  Turner syndrome not related to an homogeneous 45,X karyotype&#xD;
      </textblock>
    </criteria>
    <gender>Female</gender>
    <minimum_age>8 Years</minimum_age>
    <maximum_age>18 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Jean-Claude Carel, PHD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Assistance Publique - Hôpitaux de Paris</affiliation>
  </overall_official>
  <overall_official>
    <last_name>Delorme Richard, PHD</last_name>
    <role>Study Chair</role>
    <affiliation>APHP</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Robert Debre Hospital</name>
      <address>
        <city>Paris</city>
        <zip>75019</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>October 2016</verification_date>
  <study_first_submitted>September 6, 2012</study_first_submitted>
  <study_first_submitted_qc>September 14, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 19, 2012</study_first_posted>
  <last_update_submitted>November 15, 2019</last_update_submitted>
  <last_update_submitted_qc>November 15, 2019</last_update_submitted_qc>
  <last_update_posted type="Actual">November 18, 2019</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>Turner Syndrome</mesh_term>
    <mesh_term>Gonadal Dysgenesis</mesh_term>
    <mesh_term>Syndrome</mesh_term>
  </condition_browse>
  <!-- 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/NCT01687842
org study id: P110911
secondary id: ID RCB 2012-A00488-35
nct id: NCT01687842
lead sponsor: 
has dmc: No
Monocentric multidisciplinary study (psychologists, endocrinologists, psychiatrists, and
      molecular biologists) to characterize social cognition in adolescents with Turner syndrome
      (TS).

      Inclusion criteria:

        -  Turner syndrome with homogeneous 45,X karyotype.

        -  Age between 8 and 18 years.

        -  Somatic state compatible with the evaluation.

        -  Functional language and IQ ≥ 80 for the transfer tests

        -  Informed consent signed by the holders of parental authority, the patient and the mother
           for her own participation (DNA collection).

        -  Affiliation to Social Security (beneficiary or assignee).

      The primary endpoint will be the overall score to the AQ (Autism Quotient) questionnaire and
      to the SRS (Social Reciprocity Scale), in comparison to the expected scores for the general
      population. For patients with scores above the threshold for SRS or QA validation of a
      possible diagnosis of autism spectrum disorders will be performed with commonly used
      diagnostic tools (ADIR (Lord et al, 1994), ADOS-G (Lord et al, 1999) and diagnostic criteria
      of DSM IV-TR).

      Secondary criteria will include the results of standardized tests to assess autistic features
      (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric
      comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition,
      Perception, eXecutive functions).

      A DNA sample will be collected from the patient and her mother. The observation period is 2
      days for the patient and about 1 hour for the mother. The total duration of the study is 3
      years.
Patients will be recruited to the study by their pediatric endocrinologist during routine
      monitoring visits. They will then be contacted by phone or by mail for an appointment with
      their mother for more oral and written information consisting of an information notice and
      informed consent form. The recruitment of Turner syndrome patients will be based on the
      Reference Centre for Rare Endocrine Growth Disorders (AP-HP, Robert Debré, Armand Trousseau
      and Necker hospitals).

      The parental origin of the remaining X chromosome will be analyzed using microsatellite
      analysis and comparison of the profile of the patient and her mother.

      Statistical analysis will be conducted under the supervision of Professor C. ALBERTI using
      commonly accepted standards. All tests will be bilateral. Given the exploratory nature of the
      study, a significance threshold of 10% will be used. Statistical analyzes will be performed
      using SAS software V 9.2.
observational model: Family-Based
time perspective: Prospective
measure: Overall score to the AQ (Autism Quotient) questionnaire.
time frame: 2 days
measure: SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population.
time frame: 2 days
measure: Socio-cognitive profile and parent of origin of the intact X chromosome
time frame: 2 days
description: Results of standardized tests to assess autistic features (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition, Perception, eXecutive functions).
Parent of origin of the intact X chromosome and its relationship to the autistic features.
arm group label: Turner syndrome patients
description: Evaluation of 45,X Turner syndrome patients
intervention type: Other
intervention name: Evaluation of 45,X Turner syndrome patients
description: Evaluation of 45,X Turner syndrome patients
arm group label: Turner syndrome patients
Buccal DNA samples will be collected in the patient and her mother
study pop: 
sampling method: Probability Sample
criteria: 
gender: Female
minimum age: 8 Years
maximum age: 18 Years
healthy volunteers: No
last name: Jean-Claude Carel, PHD
role: Principal Investigator
affiliation: Assistance Publique - Hôpitaux de Paris
last name: Delorme Richard, PHD
role: Study Chair
affiliation: APHP
facility: 
country: France
responsible party type: Sponsor
mesh term: Turner Syndrome
mesh term: Gonadal Dysgenesis
mesh term: Syndrome