<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/NCT02967822</url>
  </required_header>
  <id_info>
    <org_study_id>IMNIS2015-06</org_study_id>
    <nct_id>NCT02967822</nct_id>
  </id_info>
  <brief_title>Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome</brief_title>
  <acronym>MRKH</acronym>
  <official_title>Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Imagine Institute</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Reference center for rare diseases (Rare Gynecologic Diseases)</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Imagine Institute</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      In order to understand the molecular mechanisms leading to Mayer-Rokitansky-Kuster-Hauser&#xD;
      syndrome (MRKH), the research team has to identify molecular bases of this anomaly.&#xD;
&#xD;
      Toward this goal, the research team would like to include in the study patients with MRKH&#xD;
      syndrome, as well as their healthy relatives, in order to perform genetic analyses,&#xD;
      especially whole exome sequencing.&#xD;
&#xD;
      This study has been set up in order to collect biological samples from patients with MRKH and&#xD;
      their relatives.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The MRKH is a congenital and rare malformation characterised by the absence of the uterus and&#xD;
      of 2/3 of the vagina. The incidence is 1 in 4500 female children (46,XX) and a genetic&#xD;
      component has been identified.&#xD;
&#xD;
      In order to understand the molecular mechanisms leading to this disease, the research team&#xD;
      has to identify the genetic abnormalities.&#xD;
&#xD;
      This study will be led by the research team of the Imagine Institute and the clinical teams&#xD;
      associated with the Reference Center for Rare Diseases PGR (Rare Gynecologic Diseases). Both&#xD;
      groups are based on the Necker Hospital campus, and already closely collaborate on research&#xD;
      into MRKH syndrome.&#xD;
&#xD;
      This collaboration will allow to :&#xD;
&#xD;
      i) collect biological samples from the propositus and their relatives,&#xD;
&#xD;
      ii) have a medical expertise.&#xD;
&#xD;
      The clinicians involved in the study will recruit patients, whose participation will involve&#xD;
      providing a biological sample, ie, a blood sample and/or uterine tissue collected during&#xD;
      surgical ablation, in the event that surgery is performed during clinical follow-up of the&#xD;
      patients. No specific intervention will be planned for the purposes of this study.&#xD;
&#xD;
      In order to perform genetic analysis on trios, the healthy relatives of the patients&#xD;
      (parents, brothers, sisters) will also be included. Blood samples will be taken once for&#xD;
      healthy relatives.&#xD;
&#xD;
      Genetic analysis, especially whole exome sequencing, will be performed on blood samples by&#xD;
      the research team of Imagine Institute.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date>May 2016</start_date>
  <completion_date type="Anticipated">May 2031</completion_date>
  <primary_completion_date type="Anticipated">May 2031</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 identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome</measure>
    <time_frame>15 years</time_frame>
    <description>Genetic cause identification</description>
  </primary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Anticipated">410</enrollment>
  <condition>Mayer Rokitansky Kuster Hauser Syndrome</condition>
  <arm_group>
    <arm_group_label>Patients with MRKH syndrome</arm_group_label>
    <description>Biological samples for patients.&#xD;
Inclusion of patients presenting MRKH syndrome, and who are followed in clinical centres participating in the study.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Healthy relatives</arm_group_label>
    <description>Biological samples for healthy relatives.&#xD;
Inclusion of healthy relatives of patients included in the study (parents, brothers, sisters)</description>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Biological samples for patients</intervention_name>
    <description>Blood samples. Sampling of uterine tissue during surgical intervention (collection of samples for the study only if samples remain after the routine care analyses)</description>
    <arm_group_label>Patients with MRKH syndrome</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Biological samples for healthy relatives</intervention_name>
    <description>Blood samples.</description>
    <arm_group_label>Healthy relatives</arm_group_label>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      -  Blood samples (for patients and healthy relatives)&#xD;
&#xD;
        -  Uterine tissue (for patients who have a surgical intervention during their routine&#xD;
           follow-up, and only if samples remain available after routine care analyses).&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Recruitment of patients presenting MRKH syndrome, as well as their healthy relatives, in&#xD;
        order to perform genetic analyses&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patient with MRKH syndrome OR healthy relative of patient included&#xD;
&#xD;
          -  Having signed the Informed consent form (or parents in case of patient under 18 years)&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Refusal to participate in genetic analyses&#xD;
&#xD;
          -  Participation in a therapeutical clinical study in the 30 days prior to inclusion in&#xD;
             the present study.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Stanislas Lyonnet</last_name>
    <role>Study Director</role>
    <affiliation>Institut Imagine</affiliation>
  </overall_official>
  <overall_official>
    <last_name>Michel Polak</last_name>
    <role>Principal Investigator</role>
    <affiliation>Necker - Enfants malades hospital</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Stanislas Lyonnet</last_name>
    <phone>+33 1 44 49 51 36</phone>
    <email>stanislas.lyonnet@inserm.fr</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Anna Pelet</last_name>
    <phone>+33 1 42 75 43 08</phone>
    <email>anna.pelet@inserm.fr</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Necker - Enfants malades hospital</name>
      <address>
        <city>Paris</city>
        <zip>75015</zip>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Michel Polak</last_name>
      <email>michel.polak@aphp.fr</email>
    </contact>
    <contact_backup>
      <last_name>Magali Viaud</last_name>
      <email>magali.viaud@aphp.fr</email>
    </contact_backup>
  </location>
  <location>
    <facility>
      <name>Institut Mutualiste Montsouris</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Christine Louis-Sylvestre</last_name>
      <email>christine.louis-sylvestre@imm.fr</email>
    </contact>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>October 2018</verification_date>
  <study_first_submitted>November 14, 2016</study_first_submitted>
  <study_first_submitted_qc>November 17, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">November 18, 2016</study_first_posted>
  <last_update_submitted>October 10, 2018</last_update_submitted>
  <last_update_submitted_qc>October 10, 2018</last_update_submitted_qc>
  <last_update_posted type="Actual">October 12, 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>46, XX Disorders of Sex Development</mesh_term>
    <mesh_term>Syndrome</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/NCT02967822
org study id: IMNIS2015-06
nct id: NCT02967822
lead sponsor: 
collaborator: 
has dmc: No
In order to understand the molecular mechanisms leading to Mayer-Rokitansky-Kuster-Hauser
      syndrome (MRKH), the research team has to identify molecular bases of this anomaly.

      Toward this goal, the research team would like to include in the study patients with MRKH
      syndrome, as well as their healthy relatives, in order to perform genetic analyses,
      especially whole exome sequencing.

      This study has been set up in order to collect biological samples from patients with MRKH and
      their relatives.
The MRKH is a congenital and rare malformation characterised by the absence of the uterus and
      of 2/3 of the vagina. The incidence is 1 in 4500 female children (46,XX) and a genetic
      component has been identified.

      In order to understand the molecular mechanisms leading to this disease, the research team
      has to identify the genetic abnormalities.

      This study will be led by the research team of the Imagine Institute and the clinical teams
      associated with the Reference Center for Rare Diseases PGR (Rare Gynecologic Diseases). Both
      groups are based on the Necker Hospital campus, and already closely collaborate on research
      into MRKH syndrome.

      This collaboration will allow to :

      i) collect biological samples from the propositus and their relatives,

      ii) have a medical expertise.

      The clinicians involved in the study will recruit patients, whose participation will involve
      providing a biological sample, ie, a blood sample and/or uterine tissue collected during
      surgical ablation, in the event that surgery is performed during clinical follow-up of the
      patients. No specific intervention will be planned for the purposes of this study.

      In order to perform genetic analysis on trios, the healthy relatives of the patients
      (parents, brothers, sisters) will also be included. Blood samples will be taken once for
      healthy relatives.

      Genetic analysis, especially whole exome sequencing, will be performed on blood samples by
      the research team of Imagine Institute.
observational model: Cohort
time perspective: Prospective
measure: Number of identified nucleotidic variation(s) whose consequences can explain the phenotype of MRKH syndrome
time frame: 15 years
description: Genetic cause identification
arm group label: Patients with MRKH syndrome
description: Biological samples for patients.
Inclusion of patients presenting MRKH syndrome, and who are followed in clinical centres participating in the study.
arm group label: Healthy relatives
description: Biological samples for healthy relatives.
Inclusion of healthy relatives of patients included in the study (parents, brothers, sisters)
intervention type: Genetic
intervention name: Biological samples for patients
description: Blood samples. Sampling of uterine tissue during surgical intervention (collection of samples for the study only if samples remain after the routine care analyses)
arm group label: Patients with MRKH syndrome
intervention type: Genetic
intervention name: Biological samples for healthy relatives
description: Blood samples.
arm group label: Healthy relatives
-  Blood samples (for patients and healthy relatives)

        -  Uterine tissue (for patients who have a surgical intervention during their routine
           follow-up, and only if samples remain available after routine care analyses).
study pop: 
sampling method: Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: Accepts Healthy Volunteers
last name: Stanislas Lyonnet
role: Study Director
affiliation: Institut Imagine
last name: Michel Polak
role: Principal Investigator
affiliation: Necker - Enfants malades hospital
last name: Stanislas Lyonnet
phone: +33 1 44 49 51 36
email: stanislas.lyonnet@inserm.fr
last name: Anna Pelet
phone: +33 1 42 75 43 08
email: anna.pelet@inserm.fr
facility: 
status: Recruiting
contact: 
contact backup: 
facility: 
status: Recruiting
contact: 
country: France
responsible party type: Sponsor
mesh term: 46, XX Disorders of Sex Development
mesh term: Syndrome
sharing ipd: No