xml: <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/NCT05983991</url>
    </required_header>
    <id_info>
      <org_study_id>22 HEMA 21</org_study_id>
      <nct_id>NCT05983991</nct_id>
    </id_info>
    <brief_title>Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation</brief_title>
    <acronym>GATA-2</acronym>
    <official_title>GATA-2 Project: Retrospective and Prospective Exploratory Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>Institut Claudius Regaud</agency>
        <agency_class>Other</agency_class>
      </lead_sponsor>
    </sponsors>
    <source>Institut Claudius Regaud</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>
        This trial is a translational, open-label, multi-site, retrospective and prospective cohort&#xD;
        study of 250 patients aiming to characterize predictive parameters of clonal evolution in a&#xD;
        population of subjects carrying the germline GATA2 mutation.&#xD;
  &#xD;
        This study will be conducted on a population of subjects either with previous germline GATA2&#xD;
        mutation identified or newly identified for germline GATA2 mutation in the context of routine&#xD;
        care.&#xD;
  &#xD;
        Prospective cohort:&#xD;
  &#xD;
        150 subjects will be included in this interventional prospective cohort study:&#xD;
  &#xD;
          -  Alive subjects previously identified with a germline GATA2 mutation through the already&#xD;
             existing &quot;Neutropenia database&quot;;&#xD;
  &#xD;
          -  Subject identified in the investigating centers in the context of a newly identified&#xD;
             germline GATA2 mutation.&#xD;
  &#xD;
        For each included patient, biological samples (blood and bone marrow samples) will be&#xD;
        collected at baseline visit and then during 5 years, according to the samples taken in the&#xD;
        standard practice. No additional sampling will be performed for the study.&#xD;
  &#xD;
        Retrospective cohort:&#xD;
  &#xD;
        Subjects (100 cases in total) previously identified with germline GATA2 mutation through the&#xD;
        already existing &quot;Neutropenia database&quot; and with the following features may enter the&#xD;
        retrospective cohort:&#xD;
  &#xD;
          -  Deceased patients,&#xD;
  &#xD;
          -  Lost to follow-up patients. Clinical follow-up data will be obtained from this database&#xD;
             and/or patient's medical report.&#xD;
  &#xD;
        For each retrospective case, archived blood and bone marrow samples (collected in a sanitary&#xD;
        setting) will be sent to sponsor's centralized unit for analysis.&#xD;
      </textblock>
    </brief_summary>
    <overall_status>Not yet recruiting</overall_status>
    <start_date type="Anticipated">October 2023</start_date>
    <completion_date type="Anticipated">October 2033</completion_date>
    <primary_completion_date type="Anticipated">October 2033</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>Other</primary_purpose>
      <masking>None (Open Label)</masking>
    </study_design_info>
    <primary_outcome>
      <measure>Time to appearance of spectrum 2, defined as the delay between date of birth and appearance of an event classified as spectrum 2.</measure>
      <time_frame>5 years for each patient</time_frame>
      <description>Spectrum 2 corresponds to MDS (Myelodysplastic Syndromes) with excess blasts, AML (Acute myeloid Leukemia) or CMML (Chronic myelomonocytic leukemia).</description>
    </primary_outcome>
    <secondary_outcome>
      <measure>Time to appearance of spectrum 1, defined as the delay between date of birth and appearance of spectrum 1.</measure>
      <time_frame>5 years for each patient</time_frame>
      <description>Spectrum 1 corresponds to hypoplastic marrow and/or low-grade MDS (without excess blasts).</description>
    </secondary_outcome>
    <secondary_outcome>
      <measure>Time to appearance of first hematological event defined by the delay between date of birth and appearance of first hematological.</measure>
      <time_frame>5 years for each patient</time_frame>
    </secondary_outcome>
    <secondary_outcome>
      <measure>Disease Free Survival (DFS) defined as the time from Leukemia diagnosis until first /relapse or death from any cause.</measure>
      <time_frame>5 years for each patient</time_frame>
    </secondary_outcome>
    <number_of_arms>1</number_of_arms>
    <enrollment type="Anticipated">150</enrollment>
    <condition>GATA2 Gene Mutation</condition>
    <arm_group>
      <arm_group_label>Subject with a germline GATA2 mutation (Interventional prospective cohort)</arm_group_label>
      <arm_group_type>Experimental</arm_group_type>
    </arm_group>
    <intervention>
      <intervention_type>Other</intervention_type>
      <intervention_name>Biological samples (blood and bone marrow samples).</intervention_name>
      <description>For each included patient, biological samples (blood and bone marrow samples) will be collected at baseline visit and then during 5 years, according to the samples taken in the standard practice. No additional sampling will be performed for the study.</description>
      <arm_group_label>Subject with a germline GATA2 mutation (Interventional prospective cohort)</arm_group_label>
    </intervention>
    <eligibility>
      <criteria>
        <textblock>
          Inclusion Criteria:&#xD;
  &#xD;
            1. All subject, at any age, with a germline GATA2 mutation.&#xD;
  &#xD;
            2. Patient followed in the center within a standard of care procedure or clinical trial.&#xD;
  &#xD;
            3. Signed written informed consent. For minor patients: patient assent and legal&#xD;
               guardian(s) written informed consent obtained before inclusion in the study and prior&#xD;
               performance of any study-related procedure.&#xD;
  &#xD;
            4. For French patients: patient affiliated to a Social Health Insurance.&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
            1. GATA2 somatic mutation.&#xD;
  &#xD;
            2. Any psychological, familial, geographic or social situation, according to the judgment&#xD;
               of investigator, potentially preventing the provision of informed consent or&#xD;
               compliance to study procedure.&#xD;
  &#xD;
            3. Person who has forfeited his/her freedom by administrative or legal award or who is&#xD;
               under legal protection, with the exception of persons under curatorship who may be&#xD;
               included in the 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_contact>
      <last_name>Marlène PASQUET</last_name>
      <phone>+33 5 34 55 86 08</phone>
      <email>pasquet.m@chu-toulouse.fr</email>
    </overall_contact>
    <location>
      <facility>
        <name>CHU Angers</name>
        <address>
          <city>Angers</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Sylvie FRANCOIS</last_name>
        <phone>02 41 35 44 75</phone>
        <email>syfrancois@chu-angers.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>CHU Bordeaux</name>
        <address>
          <city>Bordeaux</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Pierre-Yves DUMAS</last_name>
        <phone>05 57 64 91 62</phone>
        <email>pierre-yves.dumas@chu-bordeaux.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>CHU Estaing</name>
        <address>
          <city>Clermont-Ferrand</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Justyna KANOLD</last_name>
        <phone>04 73 75 00 09</phone>
        <email>jkanold@chu-clermontferrand.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>CHU Dijon</name>
        <address>
          <city>Dijon</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Florent NEUMANN</last_name>
        <email>florent.neumann@chu-dijon.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>CHRU - Lille</name>
        <address>
          <city>Lille</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Louis TERRIOU</last_name>
        <phone>03 20 44 44 33</phone>
        <email>Louis.TERRIOU@chu-lille.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>IHOP Lyon</name>
        <address>
          <city>Lyon</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Cécile RENARD</last_name>
        <phone>04 69 16 65 70</phone>
        <email>cecile.renard@ihope.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>CHU La Timone</name>
        <address>
          <city>Marseille</city>
          <country>France</country>
        </address>
      </facility>
    </location>
    <location>
      <facility>
        <name>CHU Arnaud de Villeneuve</name>
        <address>
          <city>Montpellier</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Eric JEZIORSKI</last_name>
        <phone>04 67 33 66 03</phone>
        <email>e-jeziorski@chu-montpellier.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>CHU Nantes</name>
        <address>
          <city>Nantes</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Caroline THOMAS</last_name>
        <phone>02 40 08 36 10</phone>
        <email>caroline.thomas@chu-nantes.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hôpital Armand Trousseau</name>
        <address>
          <city>Paris</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Jean DONADIEU</last_name>
        <phone>01 44 73 60 62</phone>
        <email>jean.donadieu@aphp.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hôpital Robert Debré</name>
        <address>
          <city>Paris</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Saba AZARNOUSH</last_name>
        <phone>01 40 03 53 88</phone>
        <email>saba.azarnoush@aphp.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>CHU Rennes</name>
        <address>
          <city>Rennes</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Virginie GANDEMER</last_name>
        <phone>02 99 26 58 35</phone>
        <email>virginie.gandemer@chu-rennes.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>CHU Saint-Etienne</name>
        <address>
          <city>Saint-Priest-en-Jarez</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Jérôme CORNILLON</last_name>
        <phone>04 77 91 70 60</phone>
        <email>jerome.cornillon@chu-st-etienne.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>CHU Strasbourg</name>
        <address>
          <city>Strasbourg</city>
          <country>France</country>
        </address>
      </facility>
    </location>
    <location>
      <facility>
        <name>CHU Purpan - Hôpital des Enfants</name>
        <address>
          <city>Toulouse</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Marlène PASQUET</last_name>
        <phone>05 34 55 86 08</phone>
        <email>pasquet.m@chu-toulouse.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>Institut Universitaire Du Cancer Toulouse - Oncopole (Iuct-O)</name>
        <address>
          <city>Toulouse</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Pierre VANDE PERRE</last_name>
        <phone>05 31 15 52 26</phone>
        <email>vandeperre.pierre@iuct-oncopole.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>CHRU Nancy Hôpital d'enfants</name>
        <address>
          <city>Vandœuvre-lès-Nancy</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Cécile POCHON</last_name>
        <phone>03 83 15 46 45</phone>
        <email>c.pochon@chru-nancy.fr</email>
      </contact>
    </location>
    <location_countries>
      <country>France</country>
    </location_countries>
    <verification_date>August 2023</verification_date>
    <study_first_submitted>July 31, 2023</study_first_submitted>
    <study_first_submitted_qc>July 31, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">August 9, 2023</study_first_posted>
    <last_update_submitted>August 16, 2023</last_update_submitted>
    <last_update_submitted_qc>August 16, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">August 21, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Sponsor</responsible_party_type>
    </responsible_party>
    <keyword>GATA2 Gene Mutation</keyword>
    <keyword>Myelodysplastic Syndromes</keyword>
    <keyword>Acute myeloid Leukemia</keyword>
    <keyword>Spectrum 2</keyword>
    <!-- Results have not yet been posted for this study                                          -->
  </clinical_study>
  
  
text: 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/NCT05983991
  org study id: 22 HEMA 21
  nct id: NCT05983991
  lead sponsor: 
  is fda regulated drug: No
  is fda regulated device: No
  This trial is a translational, open-label, multi-site, retrospective and prospective cohort
        study of 250 patients aiming to characterize predictive parameters of clonal evolution in a
        population of subjects carrying the germline GATA2 mutation.
  
        This study will be conducted on a population of subjects either with previous germline GATA2
        mutation identified or newly identified for germline GATA2 mutation in the context of routine
        care.
  
        Prospective cohort:
  
        150 subjects will be included in this interventional prospective cohort study:
  
          -  Alive subjects previously identified with a germline GATA2 mutation through the already
             existing "Neutropenia database";
  
          -  Subject identified in the investigating centers in the context of a newly identified
             germline GATA2 mutation.
  
        For each included patient, biological samples (blood and bone marrow samples) will be
        collected at baseline visit and then during 5 years, according to the samples taken in the
        standard practice. No additional sampling will be performed for the study.
  
        Retrospective cohort:
  
        Subjects (100 cases in total) previously identified with germline GATA2 mutation through the
        already existing "Neutropenia database" and with the following features may enter the
        retrospective cohort:
  
          -  Deceased patients,
  
          -  Lost to follow-up patients. Clinical follow-up data will be obtained from this database
             and/or patient's medical report.
  
        For each retrospective case, archived blood and bone marrow samples (collected in a sanitary
        setting) will be sent to sponsor's centralized unit for analysis.
  allocation: N/A
  intervention model: Single Group Assignment
  primary purpose: Other
  masking: None (Open Label)
  measure: Time to appearance of spectrum 2, defined as the delay between date of birth and appearance of an event classified as spectrum 2.
  time frame: 5 years for each patient
  description: Spectrum 2 corresponds to MDS (Myelodysplastic Syndromes) with excess blasts, AML (Acute myeloid Leukemia) or CMML (Chronic myelomonocytic leukemia).
  measure: Time to appearance of spectrum 1, defined as the delay between date of birth and appearance of spectrum 1.
  time frame: 5 years for each patient
  description: Spectrum 1 corresponds to hypoplastic marrow and/or low-grade MDS (without excess blasts).
  measure: Time to appearance of first hematological event defined by the delay between date of birth and appearance of first hematological.
  time frame: 5 years for each patient
  measure: Disease Free Survival (DFS) defined as the time from Leukemia diagnosis until first /relapse or death from any cause.
  time frame: 5 years for each patient
  arm group label: Subject with a germline GATA2 mutation (Interventional prospective cohort)
  arm group type: Experimental
  intervention type: Other
  intervention name: Biological samples (blood and bone marrow samples).
  description: For each included patient, biological samples (blood and bone marrow samples) will be collected at baseline visit and then during 5 years, according to the samples taken in the standard practice. No additional sampling will be performed for the study.
  arm group label: Subject with a germline GATA2 mutation (Interventional prospective cohort)
  criteria: 
  gender: All
  minimum age: N/A
  maximum age: N/A
  healthy volunteers: Accepts Healthy Volunteers
  last name: Marlène PASQUET
  phone: +33 5 34 55 86 08
  email: pasquet.m@chu-toulouse.fr
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  country: France
  responsible party type: Sponsor