<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/NCT03800056</url>
  </required_header>
  <id_info>
    <org_study_id>2017_36</org_study_id>
    <secondary_id>2017-A03135-48</secondary_id>
    <nct_id>NCT03800056</nct_id>
  </id_info>
  <brief_title>Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2</brief_title>
  <acronym>APECED2</acronym>
  <official_title>Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Lille</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Hospital, Lille</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>
      Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal&#xD;
      recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized&#xD;
      by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and&#xD;
      adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell&#xD;
      carcinomas (SCCs) and may lead to death. The role of chronic Candida infection in the&#xD;
      etiopathogenesis of oral SCC is unclear. Long term use of fluconazole lead to emergence of C.&#xD;
      albicans strains with azoles decreased susceptibility. CMC is associated with an impaired&#xD;
      Th17 cell response, however, it remains unclear whether decreased serum IL-17 and IL-22&#xD;
      levels are related to a defect in cytokine production or to neutralizing autoantibodies&#xD;
      resulting from mutations in the AIRE gene&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">April 23, 2021</start_date>
  <completion_date type="Anticipated">April 2026</completion_date>
  <primary_completion_date type="Anticipated">April 2026</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>the frequency of appearance of Candida yeast strains</measure>
    <time_frame>Baseline: one session</time_frame>
    <description>the frequency of appearance of Candida yeast strains found in mycological samples from both urinary and oral patients.</description>
  </primary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Anticipated">30</enrollment>
  <condition>Polyendocrinopathies, Autoimmune</condition>
  <arm_group>
    <arm_group_label>Group 1 APS 1</arm_group_label>
    <description>Patients with a APS type 1 whose molecular diagnosis (mutation of the AIRE gene) has been established in the diagnosis of the disease, regardless of their mycological status (history of mycosis) or the presence of antifungal treatment.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Group 2 APS2</arm_group_label>
    <description>Patients with APS type 2: - with adrenal insufficiency for 50% of them. - a delay of two weeks after stopping antifungal or antibiotic treatment in patients is to be respected.</description>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      -  2x7mL EDTA tubes and 1x7 mL dry tube for the collection of DNA, plasma ans serum.&#xD;
&#xD;
        -  a urine sample and an oral collection for the characterization of fungal flora&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Patients will be included during their routine follow-up for adrenal insufficiency or&#xD;
        hypoparathyroidism in the endocrinology department of the University Hospital of Lille, in&#xD;
        adult or pediatric endocrinology.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. For both of groups, inclusion criteria are :&#xD;
&#xD;
               -  children aged 0 to 17 years old with the consent of both parents, and men and&#xD;
                  women between the ages of 18 and 85.&#xD;
&#xD;
               -  a reasonable delay of 2 weeks after the resolution of an intercurrent infectious&#xD;
                  episode is to be observed.&#xD;
&#xD;
               -  assent of the patient after information adapted to his age and his degree of&#xD;
                  understanding.&#xD;
&#xD;
               -  informed, express and written consent of the patient or of each of the holders of&#xD;
                  parental authority.&#xD;
&#xD;
          2. Inclusion criteria specific to group 1: Patients with a APS type 1 whose molecular&#xD;
             diagnosis (mutation of the AIRE gene) has been established in the diagnosis of the&#xD;
             disease, regardless of their mycological status (history of mycosis) or the presence&#xD;
             of antifungal treatment.&#xD;
&#xD;
          3. Inclusion criteria specific to group 2 : Patients with APS type 2: - with adrenal&#xD;
             insufficiency for 50% of them. - a delay of two weeks after stopping antifungal or&#xD;
             antibiotic treatment in patients is to be respected.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  impossibility to receive informed information for adults, or impossibility to receive&#xD;
             enlightened information for the holders of parental authority if minor subject&#xD;
&#xD;
          -  inability to participate in the entire study, refusal to sign the consent.&#xD;
&#xD;
          -  people in an emergency situation.&#xD;
&#xD;
          -  persons deprived of their liberty.&#xD;
&#xD;
          -  pregnant or lactating woman (pregnant women will be offered to participate in the&#xD;
             study after delivery).&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>85 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Marie-Christine VANTYGHEM, MD,PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University Hospital, Lille</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Marie-Christine VANTYGHEM, MD,PhD</last_name>
    <phone>320 44 45 17</phone>
    <phone_ext>+33</phone_ext>
    <email>mc-vantyghem@chru-lille.fr</email>
  </overall_contact>
  <location>
    <facility>
      <name>Hop Claude Huriez Chu Lille</name>
      <address>
        <city>Lille</city>
        <zip>59037</zip>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <phone>0320445962</phone>
    </contact>
    <investigator>
      <last_name>Marie-Christine VANTIGHEM, MD,PhD</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>February 2022</verification_date>
  <study_first_submitted>January 8, 2019</study_first_submitted>
  <study_first_submitted_qc>January 8, 2019</study_first_submitted_qc>
  <study_first_posted type="Actual">January 10, 2019</study_first_posted>
  <last_update_submitted>February 15, 2022</last_update_submitted>
  <last_update_submitted_qc>February 15, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">February 16, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>APECED syndrome</keyword>
  <keyword>autoimmune polyendocrinopathy</keyword>
  <keyword>chronic mucocutaneous candidiasis</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Polyendocrinopathies, Autoimmune</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/NCT03800056
org study id: 2017_36
secondary id: 2017-A03135-48
nct id: NCT03800056
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal
      recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized
      by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and
      adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell
      carcinomas (SCCs) and may lead to death. The role of chronic Candida infection in the
      etiopathogenesis of oral SCC is unclear. Long term use of fluconazole lead to emergence of C.
      albicans strains with azoles decreased susceptibility. CMC is associated with an impaired
      Th17 cell response, however, it remains unclear whether decreased serum IL-17 and IL-22
      levels are related to a defect in cytokine production or to neutralizing autoantibodies
      resulting from mutations in the AIRE gene
observational model: Cohort
time perspective: Prospective
measure: the frequency of appearance of Candida yeast strains
time frame: Baseline: one session
description: the frequency of appearance of Candida yeast strains found in mycological samples from both urinary and oral patients.
arm group label: Group 1 APS 1
description: Patients with a APS type 1 whose molecular diagnosis (mutation of the AIRE gene) has been established in the diagnosis of the disease, regardless of their mycological status (history of mycosis) or the presence of antifungal treatment.
arm group label: Group 2 APS2
description: Patients with APS type 2: - with adrenal insufficiency for 50% of them. - a delay of two weeks after stopping antifungal or antibiotic treatment in patients is to be respected.
-  2x7mL EDTA tubes and 1x7 mL dry tube for the collection of DNA, plasma ans serum.

        -  a urine sample and an oral collection for the characterization of fungal flora
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: 85 Years
healthy volunteers: No
last name: Marie-Christine VANTYGHEM, MD,PhD
role: Principal Investigator
affiliation: University Hospital, Lille
last name: Marie-Christine VANTYGHEM, MD,PhD
phone: 320 44 45 17
phone ext: +33
email: mc-vantyghem@chru-lille.fr
facility: 
status: Recruiting
contact: 
investigator: 
country: France
responsible party type: Sponsor
mesh term: Polyendocrinopathies, Autoimmune