<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/NCT04471961</url>
  </required_header>
  <id_info>
    <org_study_id>RECHMPL 19_0519</org_study_id>
    <secondary_id>2020-A0298-31</secondary_id>
    <nct_id>NCT04471961</nct_id>
  </id_info>
  <brief_title>Analyse of Tumour and Constitutional DNA for the Study of the Determinism in Child Neoplasia</brief_title>
  <acronym>ALADIN</acronym>
  <official_title>Analyse of Tumour and Constitutional DNA for the Study of the Determinism in Child Neoplasia</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Montpellier</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Soroptimist association of Monaco</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>University Hospital, Montpellier</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Background. Cancer is the leading cause of death by disease in children. Most pediatric&#xD;
      tumors differ from adult tumors in terms of biological and clinical characteristics. In&#xD;
      children, the part of genetic determinism could be higher since the role of environmental&#xD;
      factors may be less pronounced than in adults and that a young age at onset is a main feature&#xD;
      of genetic cancer predisposition. Recent studies suggested that a number of genetic&#xD;
      predisposition remains to be characterized.&#xD;
&#xD;
      Methods. Trio-Based whole exome sequencing of germline DNA from patients (children and adults&#xD;
      diagnosed with cancers between 0 and 17 years) and parents will be performed prospectively in&#xD;
      a multicentric study including 40 unselected cases of malignant tumor. Participating&#xD;
      hospitals will include the CHU of Montpellier, the CHU de Nice and the AP-HP. Tumor analysis&#xD;
      will include whole exome analysis and transcriptome for the identification of therapeutic&#xD;
      target and contribute to confirm potential link between constitutive mutations and tumor&#xD;
      phenotype (such as loss of expression, loss of heterozygosity).&#xD;
&#xD;
      Perspectives. This pediatric oncology study proposing a global approach integrating&#xD;
      trio-based whole exome sequencing, somatic DNA and RNA analysis will improve the recognition&#xD;
      of genetic predisposition and the characterization of target therapies in children with&#xD;
      cancer.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Recruiting</last_known_status>
  <start_date type="Actual">July 9, 2020</start_date>
  <completion_date type="Anticipated">December 2022</completion_date>
  <primary_completion_date type="Anticipated">June 2022</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>Prevention</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Identification of genetic variants and confirmation of the causality of these variants for the patient's pathology whole exome sequencing</measure>
    <time_frame>12 months</time_frame>
    <description>A blood sample will be taken from patients and their parents in order to carry out genetic analyses.&#xD;
New generation NGS Exome sequencing in trio (patient and 2 healthy parents) on an Illumina HiSeq 2000 platform using the SureSelectXT Human All Exon 50Mb, V5 kit.&#xD;
Bioinformatics analysis of the data. Confirmation of mutations by Sanger sequencing (gold standard).&#xD;
In case of identification of mutations in candidate genes confirmed by Sanger sequencing, we will perform functional and clinical-genetic studies.</description>
  </primary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Anticipated">40</enrollment>
  <condition>Pediatric Tumor</condition>
  <condition>Familial Cancer</condition>
  <condition>Solid Tumor, Childhood</condition>
  <condition>Hematological Tumor</condition>
  <arm_group>
    <arm_group_label>Children with cancer (Proband) with theirs parents</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Exome sequencing in pediatrics cancers</intervention_name>
    <description>This pediatric oncology study proposing a global approach integrating trio-based whole exome sequencing, somatic DNA and RNA analysis will improve the recognition of genetic predisposition and the characterization of target therapies in children with cancer.</description>
    <arm_group_label>Children with cancer (Proband) with theirs parents</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  The patient has a solid or haematological malignancy, either familial forms or&#xD;
             isolated cases diagnosed between the ages of 0 and 17 years.&#xD;
&#xD;
          -  The minor patient and both biological parents are available to participate in the&#xD;
             study OR&#xD;
&#xD;
          -  The adult patient and one or both parents are available to participate in the study.&#xD;
&#xD;
          -  The patient's parents must have given their free and informed consent and signed the&#xD;
             consent for the minor's participation in the study.&#xD;
&#xD;
          -  The patient's parent(s) must have given free and informed consent and the patient of&#xD;
             legal age must have signed the consent for participation in the study.&#xD;
&#xD;
          -  The patient must be affiliated or beneficiary of a Frrench social security scheme.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  The patient's parents are under guardianship or trusteeship or under legal protection&#xD;
             Yes No&#xD;
&#xD;
          -  Failure to obtain written informed consent from parents (for themselves and their&#xD;
             minor child) after a period of reflection Yes No&#xD;
&#xD;
          -  No affiliation to or beneficiary of a French social security scheme (for biological&#xD;
             parents and the patient)&#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>Pascal Pujol, PU-PH</last_name>
    <role>Principal Investigator</role>
    <affiliation>Montpellier University Hospital</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Pascal Pujol, PU-PH</last_name>
    <phone>+33 4 67 33 58 75</phone>
    <email>p-pujol@chu-montpellier.fr</email>
  </overall_contact>
  <location>
    <facility>
      <name>CHU Montpellier</name>
      <address>
        <city>Montpellier</city>
        <state>Occitanie</state>
        <zip>34295</zip>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Pascal Pujol, PU-PH</last_name>
      <phone>04 67 33 58 75</phone>
      <phone_ext>33</phone_ext>
      <email>p-pujol@chu-montpellier.fr</email>
    </contact>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>March 2021</verification_date>
  <study_first_submitted>July 10, 2020</study_first_submitted>
  <study_first_submitted_qc>July 10, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 15, 2020</study_first_posted>
  <last_update_submitted>March 11, 2021</last_update_submitted>
  <last_update_submitted_qc>March 11, 2021</last_update_submitted_qc>
  <last_update_posted type="Actual">March 15, 2021</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Pediatric oncology</keyword>
  <keyword>Exome based trio</keyword>
  <keyword>Cancer predisposition gene</keyword>
  <keyword>Target therapies</keyword>
  <keyword>Tumor exome</keyword>
  <keyword>Transcriptome</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Neoplasms</mesh_term>
    <mesh_term>Hematologic Neoplasms</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/NCT04471961
org study id: RECHMPL 19_0519
secondary id: 2020-A0298-31
nct id: NCT04471961
lead sponsor: 
collaborator: 
has dmc: Yes
is fda regulated drug: No
is fda regulated device: No
Background. Cancer is the leading cause of death by disease in children. Most pediatric
      tumors differ from adult tumors in terms of biological and clinical characteristics. In
      children, the part of genetic determinism could be higher since the role of environmental
      factors may be less pronounced than in adults and that a young age at onset is a main feature
      of genetic cancer predisposition. Recent studies suggested that a number of genetic
      predisposition remains to be characterized.

      Methods. Trio-Based whole exome sequencing of germline DNA from patients (children and adults
      diagnosed with cancers between 0 and 17 years) and parents will be performed prospectively in
      a multicentric study including 40 unselected cases of malignant tumor. Participating
      hospitals will include the CHU of Montpellier, the CHU de Nice and the AP-HP. Tumor analysis
      will include whole exome analysis and transcriptome for the identification of therapeutic
      target and contribute to confirm potential link between constitutive mutations and tumor
      phenotype (such as loss of expression, loss of heterozygosity).

      Perspectives. This pediatric oncology study proposing a global approach integrating
      trio-based whole exome sequencing, somatic DNA and RNA analysis will improve the recognition
      of genetic predisposition and the characterization of target therapies in children with
      cancer.
allocation: N/A
intervention model: Single Group Assignment
primary purpose: Prevention
masking: None (Open Label)
measure: Identification of genetic variants and confirmation of the causality of these variants for the patient's pathology whole exome sequencing
time frame: 12 months
description: A blood sample will be taken from patients and their parents in order to carry out genetic analyses.
New generation NGS Exome sequencing in trio (patient and 2 healthy parents) on an Illumina HiSeq 2000 platform using the SureSelectXT Human All Exon 50Mb, V5 kit.
Bioinformatics analysis of the data. Confirmation of mutations by Sanger sequencing (gold standard).
In case of identification of mutations in candidate genes confirmed by Sanger sequencing, we will perform functional and clinical-genetic studies.
arm group label: Children with cancer (Proband) with theirs parents
arm group type: Experimental
intervention type: Genetic
intervention name: Exome sequencing in pediatrics cancers
description: This pediatric oncology study proposing a global approach integrating trio-based whole exome sequencing, somatic DNA and RNA analysis will improve the recognition of genetic predisposition and the characterization of target therapies in children with cancer.
arm group label: Children with cancer (Proband) with theirs parents
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Pascal Pujol, PU-PH
role: Principal Investigator
affiliation: Montpellier University Hospital
last name: Pascal Pujol, PU-PH
phone: +33 4 67 33 58 75
email: p-pujol@chu-montpellier.fr
facility: 
status: Recruiting
contact: 
country: France
responsible party type: Sponsor
mesh term: Neoplasms
mesh term: Hematologic Neoplasms