<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/NCT04417777</url>
  </required_header>
  <id_info>
    <org_study_id>POLYGENET</org_study_id>
    <nct_id>NCT04417777</nct_id>
  </id_info>
  <brief_title>Genetic Study of the Dilatations of the Idiopathic Bronchi in French Polynesia</brief_title>
  <official_title>Etude génétique Des Dilatations Des Bronches Idiopathiques en Polynésie française</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Centre Hospitalier Intercommunal Creteil</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Centre Hospitalier Intercommunal Creteil</source>
  <oversight_info>
    <has_dmc>No</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>
      Bronchiectasis, defined by an increase in bronchial caliber and thickening of the bronchial&#xD;
      wall, is associated with recurrent respiratory infections, chronic cough and bronchorrhea,&#xD;
      and a frequent progression to chronic respiratory failure. Investigator distinguish focal&#xD;
      bronchiectasis usually resulting from a localized cause and diffuse bronchiectasis which the&#xD;
      possible causes are multiple (immune deficiencies, genetic diseases, auto immune pathologies,&#xD;
      aspergillosis broncho -allergic lung, sequelae of pulmonary infections).The etiological&#xD;
      assessment is negative in 26 to 53% of cases, defining the idiopathic bronchiectasis.&#xD;
      However, the discovery of an underlying cause can change the patient's management (up to 37%&#xD;
      of cases).&#xD;
&#xD;
      Despite the lack of epidemiological data in French Polynesia, Australian and New Zealand&#xD;
      studies found a high prevalence of bronchiectasis in Polynesians. Few clinical studies&#xD;
      published in the early 1980s suggested a ciliary origin.&#xD;
&#xD;
      Due to its geographic characteristics, the Polynesian population constitutes an interesting&#xD;
      ethnic group. Indeed, there is a low genetic mixing and the prevalence of certain genetic&#xD;
      diseases like the syndrome of Alport or some hereditary retinal dystrophies are high. This&#xD;
      type of population is very suitable for discovering new genes in human pathology.&#xD;
&#xD;
      Investigator decided to conduct an observational study to find an underlying genetic cause of&#xD;
      bronchiectasis in Polynesians by performing a whole exome sequencing. Investigator chose to&#xD;
      study index cases defined by an upset of symptoms during the childhood, a family history of&#xD;
      idiopathic bronchiectasis, and/or a consanguinity. Investigator also want to study healthy&#xD;
      first degree relatives, in order to be able to better identify the clinical significant of&#xD;
      DNA variants and focus the analysis on those that may be pathogenic&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">February 10, 2022</start_date>
  <completion_date type="Anticipated">February 9, 2024</completion_date>
  <primary_completion_date type="Actual">March 9, 2022</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>identification of genetic mutation</measure>
    <time_frame>Anytime in the period of 10 years</time_frame>
    <description>New mutation in the coding region or mutation located outside the coding regions on the transcriptome</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Clinical phenotype</measure>
    <time_frame>Anytime in the period of 10 years</time_frame>
    <description>Extra-respiratory history Bronchial colonizations Scannographic aspect</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>scannographic description</measure>
    <time_frame>Anytime in the period of 10 years</time_frame>
    <description>Extra-respiratory history Bronchial colonizations Scannographic aspect</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Effect on the splicing of messenger RNA</measure>
    <time_frame>Anytime in the period of 10 years</time_frame>
    <description>correlation genotype/phenotype</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>transcriptome of patients</measure>
    <time_frame>Anytime in the period of 10 years</time_frame>
    <description>correlation genotype/phenotype</description>
  </secondary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Anticipated">20</enrollment>
  <condition>Idiopathic Bronchiectasis</condition>
  <arm_group>
    <arm_group_label>Polynesian patient</arm_group_label>
    <description>Patient with dilatation of idiopathic bronchi</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Relatives of polynesian patient</arm_group_label>
    <description>Healthy</description>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Blood Test</intervention_name>
    <description>Blood analysis</description>
    <arm_group_label>Polynesian patient</arm_group_label>
    <arm_group_label>Relatives of polynesian patient</arm_group_label>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      ADN and ARN are collected&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Polynesian patient with dilatation of idiopathic bronchi&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        *Patients&#xD;
&#xD;
        Inclusion Criteria:&#xD;
&#xD;
          -  Polynesian adult more than18 years&#xD;
&#xD;
          -  dilatation of idiopathic bronchi confirmed to thoracic CTscan&#xD;
&#xD;
          -  Negative etiological balance (including sweat test, research of Dyskinesia Ciliary&#xD;
             Primitive and immunological check-up)&#xD;
&#xD;
          -  Appearance of symptoms in childhood, or family history of chronic bronchial disease,&#xD;
             or notion of inbreeding&#xD;
&#xD;
          -  Signed consent&#xD;
&#xD;
          -  Affiliated with a social security system&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Refusal to participate in the study&#xD;
&#xD;
             *Relatives&#xD;
&#xD;
          -  First-degree healthy relatives&#xD;
&#xD;
          -  Polynesian adult more than 18 years&#xD;
&#xD;
          -  Signed consent&#xD;
&#xD;
          -  Affiliated with a social security system&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Refusal to participate in the study&#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>Benoit DOUVRY, MD</last_name>
    <phone>01 45 17 57 28</phone>
    <email>Benoit.Douvry@chicreteil.fr</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Eric PARRAT, MD</last_name>
    <email>eric.parrat@cht.pf</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>CH Polynesie Française</name>
      <address>
        <city>Papeete</city>
        <country>French Polynesia</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Eric PARRAT, MD</last_name>
      <email>eric.parrat@cht.pf</email>
    </contact>
  </location>
  <location_countries>
    <country>French Polynesia</country>
  </location_countries>
  <verification_date>June 2023</verification_date>
  <study_first_submitted>May 26, 2020</study_first_submitted>
  <study_first_submitted_qc>June 2, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">June 5, 2020</study_first_posted>
  <last_update_submitted>June 2, 2023</last_update_submitted>
  <last_update_submitted_qc>June 2, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">June 5, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Genetic Disease</keyword>
  <keyword>Idiopathic Bronchiectasis Polynesia</keyword>
  <keyword>polynesia</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Bronchiectasis</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/NCT04417777
org study id: POLYGENET
nct id: NCT04417777
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Bronchiectasis, defined by an increase in bronchial caliber and thickening of the bronchial
      wall, is associated with recurrent respiratory infections, chronic cough and bronchorrhea,
      and a frequent progression to chronic respiratory failure. Investigator distinguish focal
      bronchiectasis usually resulting from a localized cause and diffuse bronchiectasis which the
      possible causes are multiple (immune deficiencies, genetic diseases, auto immune pathologies,
      aspergillosis broncho -allergic lung, sequelae of pulmonary infections).The etiological
      assessment is negative in 26 to 53% of cases, defining the idiopathic bronchiectasis.
      However, the discovery of an underlying cause can change the patient's management (up to 37%
      of cases).

      Despite the lack of epidemiological data in French Polynesia, Australian and New Zealand
      studies found a high prevalence of bronchiectasis in Polynesians. Few clinical studies
      published in the early 1980s suggested a ciliary origin.

      Due to its geographic characteristics, the Polynesian population constitutes an interesting
      ethnic group. Indeed, there is a low genetic mixing and the prevalence of certain genetic
      diseases like the syndrome of Alport or some hereditary retinal dystrophies are high. This
      type of population is very suitable for discovering new genes in human pathology.

      Investigator decided to conduct an observational study to find an underlying genetic cause of
      bronchiectasis in Polynesians by performing a whole exome sequencing. Investigator chose to
      study index cases defined by an upset of symptoms during the childhood, a family history of
      idiopathic bronchiectasis, and/or a consanguinity. Investigator also want to study healthy
      first degree relatives, in order to be able to better identify the clinical significant of
      DNA variants and focus the analysis on those that may be pathogenic
observational model: Cohort
time perspective: Prospective
measure: identification of genetic mutation
time frame: Anytime in the period of 10 years
description: New mutation in the coding region or mutation located outside the coding regions on the transcriptome
measure: Clinical phenotype
time frame: Anytime in the period of 10 years
description: Extra-respiratory history Bronchial colonizations Scannographic aspect
measure: scannographic description
time frame: Anytime in the period of 10 years
description: Extra-respiratory history Bronchial colonizations Scannographic aspect
measure: Effect on the splicing of messenger RNA
time frame: Anytime in the period of 10 years
description: correlation genotype/phenotype
measure: transcriptome of patients
time frame: Anytime in the period of 10 years
description: correlation genotype/phenotype
arm group label: Polynesian patient
description: Patient with dilatation of idiopathic bronchi
arm group label: Relatives of polynesian patient
description: Healthy
intervention type: Genetic
intervention name: Blood Test
description: Blood analysis
arm group label: Polynesian patient
arm group label: Relatives of polynesian patient
ADN and ARN are collected
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: Accepts Healthy Volunteers
last name: Benoit DOUVRY, MD
phone: 01 45 17 57 28
email: Benoit.Douvry@chicreteil.fr
last name: Eric PARRAT, MD
email: eric.parrat@cht.pf
facility: 
status: Recruiting
contact: 
country: French Polynesia
responsible party type: Sponsor
mesh term: Bronchiectasis