<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/NCT03263364</url>
  </required_header>
  <id_info>
    <org_study_id>GIRODON PRTS 2015</org_study_id>
    <nct_id>NCT03263364</nct_id>
  </id_info>
  <brief_title>Genomic Screening for Hereditary Erythrocytosis and Related Diseases</brief_title>
  <acronym>GENRED</acronym>
  <official_title>Genomic Screening for Hereditary Erythrocytosis and Related Diseases</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Centre Hospitalier Universitaire Dijon</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Centre Hospitalier Universitaire Dijon</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>
      Unexplained polycythemias are rare diseases, and therefore, the collection of data inherent&#xD;
      to these diseases will not only improve their characterisation, but also allow stratification&#xD;
      according to the risks and the course of the disease. The objective of this project is to&#xD;
      constitute a database on the disease which will allow us to better understand it and in due&#xD;
      course improve its management.&#xD;
&#xD;
      The GENRED project thus bears uniquely on the collection of information, which will be&#xD;
      gathered throughout the usual management of patients for this type of disease.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Recruiting</last_known_status>
  <start_date type="Actual">October 2016</start_date>
  <completion_date type="Anticipated">October 2020</completion_date>
  <primary_completion_date type="Anticipated">October 2020</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>Germline mutations that cause Hereditary Erythrocytosis/Idiopathic Erythrocytosis</measure>
    <time_frame>at baseline</time_frame>
  </primary_outcome>
  <enrollment type="Anticipated">150</enrollment>
  <condition>Hereditary Erythrocytosis/Idiopathic Erythrocytosis</condition>
  <eligibility>
    <study_pop>
      <textblock>
        Hereditary Erythrocytosis/Idiopathic Erythrocytosis&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        The characteristics of the patients included in the database will be described in terms of&#xD;
        numbers and percentages for qualitative variables and in terms of means and standard&#xD;
        deviations or medians and interquartile intervals for quantitative variables.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        The first step will be to exclude acquired secondary (pulmonary, renal and cardiac) or&#xD;
        acquired primary (polycythemia vera due to JAK2 mutations) causes. The family history and&#xD;
        the determination of serum EPO levels are very useful in the decision regarding which&#xD;
        molecular tests should be performed first.&#xD;
&#xD;
          -  patients without absolute erythrocytosis (i.e. without an increased red cell mass&#xD;
             &gt;125% of mean predicted value, or if the haematocrit is &lt;60% in males or &lt;56% in&#xD;
             females.&#xD;
&#xD;
          -  erythrocytosis related to polycythemia vera according to the 2008 WHO (World Health&#xD;
             Organization) criteria&#xD;
&#xD;
          -  Secondary erythrocytosis related to an obvious cause (renal lesions, chronic lung or&#xD;
             heart diseases, endocrine lesions, miscellaneous tumours producing EPO, drugs such as&#xD;
             androgens, hepatic lesions…)&#xD;
&#xD;
          -  Low venous blood p50: the determination of p50 (percentage at which Hb is half&#xD;
             saturated with oxygen) is very helpful is establishing the presence of a haemoglobin&#xD;
             variant with high oxygen affinity or a rare 2,3-diphosphoglycerate (2,3-DPG)&#xD;
             deficiency. In such a situation, a specific HBB, HBA1 and HBA2 mutation will be&#xD;
             screened for using Sanger sequencing (these genes are not included in NGS analysis&#xD;
             because of redundancy of pseudogenes).&#xD;
&#xD;
        In order to rule out non-informative erythrocytosis cases, a form including mandatory&#xD;
        further tests must be filled in for a selection step. The required tests are: complete&#xD;
        blood counts&#xD;
&#xD;
          -  Blood electrolytes&#xD;
&#xD;
          -  Arterial and venous gazes&#xD;
&#xD;
          -  Serum erythropoietin dosage&#xD;
&#xD;
          -  Liver function tests&#xD;
&#xD;
          -  JAK2 mutations (both V617F and exon 12)&#xD;
&#xD;
          -  Bone marrow aspirate and/or biopsy and/or endogenous BFU-E culture&#xD;
&#xD;
          -  Abdominal ultrasound&#xD;
&#xD;
          -  Lung function tests&#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_contact>
    <last_name>François GIRODON</last_name>
    <phone>0380293031</phone>
    <phone_ext>+33</phone_ext>
    <email>francois.girodon@chu-dijon.fr</email>
  </overall_contact>
  <location>
    <facility>
      <name>CHU Dijon Bourgogne</name>
      <address>
        <city>Dijon</city>
        <zip>21079</zip>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>François GIRODON</last_name>
      <phone>03 80 29 30 31</phone>
      <phone_ext>+33</phone_ext>
      <email>francois.girodon@chu-dijon.fr</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>CHU de NANTES</name>
      <address>
        <city>Nantes</city>
        <zip>44093</zip>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Stéphane BEZIEAU</last_name>
    </contact>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>August 2017</verification_date>
  <study_first_submitted>August 23, 2017</study_first_submitted>
  <study_first_submitted_qc>August 25, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">August 28, 2017</study_first_posted>
  <last_update_submitted>August 25, 2017</last_update_submitted>
  <last_update_submitted_qc>August 25, 2017</last_update_submitted_qc>
  <last_update_posted type="Actual">August 28, 2017</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>Polycythemia</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/NCT03263364
org study id: GIRODON PRTS 2015
nct id: NCT03263364
lead sponsor: 
is fda regulated drug: No
is fda regulated device: No
Unexplained polycythemias are rare diseases, and therefore, the collection of data inherent
      to these diseases will not only improve their characterisation, but also allow stratification
      according to the risks and the course of the disease. The objective of this project is to
      constitute a database on the disease which will allow us to better understand it and in due
      course improve its management.

      The GENRED project thus bears uniquely on the collection of information, which will be
      gathered throughout the usual management of patients for this type of disease.
observational model: Cohort
time perspective: Prospective
measure: Germline mutations that cause Hereditary Erythrocytosis/Idiopathic Erythrocytosis
time frame: at baseline
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: François GIRODON
phone: 0380293031
phone ext: +33
email: francois.girodon@chu-dijon.fr
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
country: France
responsible party type: Sponsor
mesh term: Polycythemia