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/NCT06022016</url>
    </required_header>
    <id_info>
      <org_study_id>23HEMA06</org_study_id>
      <nct_id>NCT06022016</nct_id>
    </id_info>
    <brief_title>Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.</brief_title>
    <acronym>LUCID</acronym>
    <official_title>Study of Families With an Hemopathies Predisposition Related to the DDX41 Gene.</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 is a multicenter, interventional, historico-prospective cohort pilot study aimed at&#xD;
        specifying the phenotype of subjects carrying a constitutional familial DDX41 mutation, with&#xD;
        a view to eventually publishing oncogenetic recommendations for carriers of this mutation.&#xD;
  &#xD;
        The main objective of the LUCID project is to assess the cumulative risk of hematological&#xD;
        diseases (Myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) or cytopenia) as a&#xD;
        function of age in DDX41 germline mutation carriers.&#xD;
  &#xD;
        This study will be carried out in two stages:&#xD;
  &#xD;
        Stage 1: Inclusion of index cases in an oncogenetic consultation (salivary test, completion&#xD;
        of an health self-questionnaire and collection of contact details for the related cases).&#xD;
  &#xD;
        Stage 2: Proposition of participation to family members, by correspondence, and determination&#xD;
        of carrier or non-carrier status of the constitutional familial DDX41 mutation (based on a&#xD;
        salivary test).&#xD;
  &#xD;
        A maximum of 210 index case patients and 700 family member will be included in this study.&#xD;
      </textblock>
    </brief_summary>
    <overall_status>Not yet recruiting</overall_status>
    <start_date type="Anticipated">September 2023</start_date>
    <completion_date type="Anticipated">November 2029</completion_date>
    <primary_completion_date type="Anticipated">November 2029</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>The time to onset of hemopathy defined as the time between the date of birth and the date of diagnosis of an hemopathy.</measure>
      <time_frame>74 months after the study start date</time_frame>
    </primary_outcome>
    <secondary_outcome>
      <measure>Post-transplant relapse-free survival defined as the time between the date of transplantation and the date of all-cause relapse or death.</measure>
      <time_frame>74 months after the study start date</time_frame>
    </secondary_outcome>
    <number_of_arms>1</number_of_arms>
    <enrollment type="Anticipated">910</enrollment>
    <condition>DDX41 Gene Mutation</condition>
    <arm_group>
      <arm_group_label>Index case or related</arm_group_label>
      <arm_group_type>Experimental</arm_group_type>
    </arm_group>
    <intervention>
      <intervention_type>Genetic</intervention_type>
      <intervention_name>For each person (index case or related) included in this study:</intervention_name>
      <description>an health questionnaire will be completed in order to gather information on the participant's medical history and lifestyle.&#xD;
  a saliva sample will be taken (if applicable) so that a genetic analysis can be performed.</description>
      <arm_group_label>Index case or related</arm_group_label>
    </intervention>
    <eligibility>
      <criteria>
        <textblock>
          Index cases:&#xD;
  &#xD;
          Inclusion Criteria:&#xD;
  &#xD;
            1. Women or man aged ≥ 18 years old.&#xD;
  &#xD;
            2. Personal history(s) of hemopathy or patient with hemopathy at the time of inclusion:&#xD;
               acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), idiopathic cytopenia.&#xD;
  &#xD;
            3. Patient with a tumor mutation of DDX41 with an allelic frequency (AF) ≥ 30% (with&#xD;
               total depth of nucleotide position &gt;300x: provide tumor molecular analysis report).&#xD;
  &#xD;
               Special case of inclusion of deceased index cases: the DDX41 tumor mutation of&#xD;
               interest must be accompanied by another somatic DDX41 mutation (the most frequent&#xD;
               being p.R525H).&#xD;
  &#xD;
               Or patient known to be a constitutional carrier of a DDX41 mutation confirmed after&#xD;
               oncogenetic consultation (in this case, provide constitutional analysis report).&#xD;
  &#xD;
            4. Patient (or beneficiary) agreeing to release results of oncogenetic report.&#xD;
  &#xD;
            5. Patient (or beneficiary) agrees to communicate the contact details of his relatives&#xD;
               and that they may be contacted by mail to participate in the LUCID study.&#xD;
  &#xD;
            6. Patient affiliated to a Social Health Insurance in France.&#xD;
  &#xD;
            7. Patient able to participate and willing to give informed consent prior performance of&#xD;
               any study-related procedures.&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
            1. No history of hemopathy or no current hemopathy.&#xD;
  &#xD;
            2. Patient (or beneficiary) unable to complete questionnaire for social or psychological&#xD;
               reasons.&#xD;
  &#xD;
            3. Patient who has forfeited his/her freedom by administrative or legal award or who is&#xD;
               under legal protection (curatorship and guardianship, protection of justice).&#xD;
  &#xD;
          Related cases (Family member):&#xD;
  &#xD;
          Inclusion Criteria:&#xD;
  &#xD;
            1. Women or man aged ≥ 18 years old.&#xD;
  &#xD;
            2. Related in the 1st, 2nd or 3rd degree (parents, children, grandchildren, brothers,&#xD;
               sisters, grandparents, nephews, nieces, uncles, aunts, great-grandparents) to an index&#xD;
               case included in the LUCID study.&#xD;
  &#xD;
            3. Agreeing to carry out a scientific salivary test for the constitutional research of&#xD;
               the DDX41 mutation.&#xD;
  &#xD;
            4. Patient affiliated to a Social Health Insurance in France.&#xD;
  &#xD;
            5. Patient able to participate and willing to give informed consent prior performance of&#xD;
               any study-related procedures.&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
            1. Related in the 4th or 5th degree to an index case included in the LUCID study.&#xD;
  &#xD;
            2. Person already identified as an index case in the LUCID study.&#xD;
  &#xD;
            3. Person unable to complete questionnaire for social or psychological reasons.&#xD;
  &#xD;
            4. Person who has forfeited his/her freedom by administrative or legal award or who is&#xD;
               under legal protection (curatorship and guardianship, protection of justice).&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>18 Years</minimum_age>
      <maximum_age>N/A</maximum_age>
      <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
    </eligibility>
    <overall_contact>
      <last_name>Pierre VANDE PERRE</last_name>
      <phone>05 31 15 52 26</phone>
      <email>vandeperre.pierre@iuct-oncopole.fr</email>
    </overall_contact>
    <location>
      <facility>
        <name>Chu de Bordeaux</name>
        <address>
          <city>Bordeaux</city>
          <country>France</country>
        </address>
      </facility>
      <contact>
        <last_name>Julie TINAT</last_name>
        <phone>05 57 82 11 67</phone>
        <email>julie.tinat@chu-bordeaux.fr</email>
      </contact>
    </location>
    <location>
      <facility>
        <name>Chu de Limoges</name>
        <address>
          <city>Limoges</city>
          <country>France</country>
        </address>
      </facility>
    </location>
    <location>
      <facility>
        <name>Institut Paoli-Calmettes</name>
        <address>
          <city>Marseille</city>
          <country>France</country>
        </address>
      </facility>
    </location>
    <location>
      <facility>
        <name>Chu de Montpellier</name>
        <address>
          <city>Montpellier</city>
          <country>France</country>
        </address>
      </facility>
    </location>
    <location>
      <facility>
        <name>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_countries>
      <country>France</country>
    </location_countries>
    <verification_date>August 2023</verification_date>
    <study_first_submitted>August 28, 2023</study_first_submitted>
    <study_first_submitted_qc>August 28, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">September 1, 2023</study_first_posted>
    <last_update_submitted>August 28, 2023</last_update_submitted>
    <last_update_submitted_qc>August 28, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">September 1, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Sponsor</responsible_party_type>
    </responsible_party>
    <keyword>GermlIne DDX41 mutation</keyword>
    <keyword>Myelodysplastic Syndrome</keyword>
    <keyword>Acute Myeloid Leukemia</keyword>
    <keyword>Idiopathic Cytopenia</keyword>
    <keyword>LeUkemia</keyword>
    <condition_browse>
      <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
      <mesh_term>Disease Susceptibility</mesh_term>
    </condition_browse>
    <!-- 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/NCT06022016
  org study id: 23HEMA06
  nct id: NCT06022016
  lead sponsor: 
  is fda regulated drug: No
  is fda regulated device: No
  This is a multicenter, interventional, historico-prospective cohort pilot study aimed at
        specifying the phenotype of subjects carrying a constitutional familial DDX41 mutation, with
        a view to eventually publishing oncogenetic recommendations for carriers of this mutation.
  
        The main objective of the LUCID project is to assess the cumulative risk of hematological
        diseases (Myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) or cytopenia) as a
        function of age in DDX41 germline mutation carriers.
  
        This study will be carried out in two stages:
  
        Stage 1: Inclusion of index cases in an oncogenetic consultation (salivary test, completion
        of an health self-questionnaire and collection of contact details for the related cases).
  
        Stage 2: Proposition of participation to family members, by correspondence, and determination
        of carrier or non-carrier status of the constitutional familial DDX41 mutation (based on a
        salivary test).
  
        A maximum of 210 index case patients and 700 family member will be included in this study.
  allocation: N/A
  intervention model: Single Group Assignment
  primary purpose: Other
  masking: None (Open Label)
  measure: The time to onset of hemopathy defined as the time between the date of birth and the date of diagnosis of an hemopathy.
  time frame: 74 months after the study start date
  measure: Post-transplant relapse-free survival defined as the time between the date of transplantation and the date of all-cause relapse or death.
  time frame: 74 months after the study start date
  arm group label: Index case or related
  arm group type: Experimental
  intervention type: Genetic
  intervention name: For each person (index case or related) included in this study:
  description: an health questionnaire will be completed in order to gather information on the participant's medical history and lifestyle.
  a saliva sample will be taken (if applicable) so that a genetic analysis can be performed.
  arm group label: Index case or related
  criteria: 
  gender: All
  minimum age: 18 Years
  maximum age: N/A
  healthy volunteers: Accepts Healthy Volunteers
  last name: Pierre VANDE PERRE
  phone: 05 31 15 52 26
  email: vandeperre.pierre@iuct-oncopole.fr
  facility: 
  contact: 
  facility: 
  facility: 
  facility: 
  facility: 
  contact: 
  country: France
  responsible party type: Sponsor
  mesh term: Disease Susceptibility