<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/NCT03283852</url>
  </required_header>
  <id_info>
    <org_study_id>RBR_2016_16</org_study_id>
    <nct_id>NCT03283852</nct_id>
  </id_info>
  <brief_title>Identifying New Genetic Causes to Development Disorders</brief_title>
  <acronym>FORDEV</acronym>
  <official_title>Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Fondation Ophtalmologique Adolphe de Rothschild</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Fondation Ophtalmologique Adolphe de Rothschild</source>
  <oversight_info>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Disorders of growth, puberty and sex development can have genetic causes. The exome analysis&#xD;
      could detect new mutations responsible for these disorders and the frequency of these&#xD;
      mutations in these disorders, their association with other malformations.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">February 21, 2017</start_date>
  <completion_date type="Anticipated">February 21, 2027</completion_date>
  <primary_completion_date type="Anticipated">February 21, 2027</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>Cross-Sectional</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>mutation research</measure>
    <time_frame>baseline</time_frame>
    <description>frequency of genetic mutation</description>
  </primary_outcome>
  <enrollment type="Anticipated">1100</enrollment>
  <condition>Disorders of Sex Development</condition>
  <condition>Growth Disorders</condition>
  <condition>Puberty Disorders</condition>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>blood sample</intervention_name>
    <description>search for genetic mutations</description>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      •Samples With DNA: serum&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Patients with disorders of growth, puberty and sex development and related subjects.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  congenital growth hormone deficiency&#xD;
&#xD;
          -  puberty disorder&#xD;
&#xD;
          -  gonadal dysgenesis or anorchia&#xD;
&#xD;
          -  primary ovarian failure&#xD;
&#xD;
          -  disorder of sex development&#xD;
&#xD;
          -  subjects related to a patient with one of the above criteria&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  environmental or auto-immune cause&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Raja Brauner, PU-PH</last_name>
    <role>Principal Investigator</role>
    <affiliation>Hôpital Fondation A. de Rothschild</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Amélie YAVCHITZ, MD, PHD</last_name>
    <phone>01 48 03 64 54</phone>
    <email>ayavchitz@for.paris</email>
  </overall_contact>
  <location>
    <facility>
      <name>Hôpital Fondation A de Rothschild</name>
      <address>
        <city>Paris</city>
        <zip>75019</zip>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Amélie YAVCHITZ, M.D.</last_name>
      <phone>01 48 03 64 54</phone>
      <email>ayavchitz@for.paris</email>
    </contact>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>January 2022</verification_date>
  <study_first_submitted>September 13, 2017</study_first_submitted>
  <study_first_submitted_qc>September 13, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">September 14, 2017</study_first_posted>
  <last_update_submitted>January 26, 2022</last_update_submitted>
  <last_update_submitted_qc>January 26, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">January 27, 2022</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>Disorders of Sex Development</mesh_term>
    <mesh_term>Growth Disorders</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/NCT03283852
org study id: RBR_2016_16
nct id: NCT03283852
lead sponsor: 
is fda regulated drug: No
is fda regulated device: No
Disorders of growth, puberty and sex development can have genetic causes. The exome analysis
      could detect new mutations responsible for these disorders and the frequency of these
      mutations in these disorders, their association with other malformations.
observational model: Cohort
time perspective: Cross-Sectional
measure: mutation research
time frame: baseline
description: frequency of genetic mutation
intervention type: Genetic
intervention name: blood sample
description: search for genetic mutations
•Samples With DNA: serum
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Raja Brauner, PU-PH
role: Principal Investigator
affiliation: Hôpital Fondation A. de Rothschild
last name: Amélie YAVCHITZ, MD, PHD
phone: 01 48 03 64 54
email: ayavchitz@for.paris
facility: 
status: Recruiting
contact: 
country: France
responsible party type: Sponsor
mesh term: Disorders of Sex Development
mesh term: Growth Disorders