<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/NCT03751683</url>
  </required_header>
  <id_info>
    <org_study_id>2008_30/0915</org_study_id>
    <secondary_id>2009-A00197-50</secondary_id>
    <nct_id>NCT03751683</nct_id>
  </id_info>
  <brief_title>Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome</brief_title>
  <acronym>APECED</acronym>
  <official_title>Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Lille</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Ministry of Health, France</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </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>
      The objective of the study will define the mutational spectrum in this French cohort, in&#xD;
      patients with APECED syndrome genetically authenticated&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Active, not recruiting</last_known_status>
  <start_date type="Actual">July 30, 2009</start_date>
  <completion_date type="Anticipated">September 2020</completion_date>
  <primary_completion_date type="Anticipated">September 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>allelic frequency of the mutation c.967-979del13 of the AIRE gene</measure>
    <time_frame>Baseline: one session</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>total number of cases recognized APECED syndrome regardless of the diagnostic criteria used.</measure>
    <time_frame>Baseline: one session</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome.</measure>
    <time_frame>Baseline: one session</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome.</measure>
    <time_frame>Baseline: one session</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>prevalence of types of antibodies found on APECED syndrome.</measure>
    <time_frame>Baseline: one session</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome.</measure>
    <time_frame>Baseline: one session</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>proportion of patients with a molecular diagnosis of positive APECED syndrome, among patients presenting our new diagnostic criteria (a major criterion and at least 2 criteria</measure>
    <time_frame>Baseline: one session</time_frame>
  </secondary_outcome>
  <enrollment type="Actual">66</enrollment>
  <condition>APECED</condition>
  <eligibility>
    <study_pop>
      <textblock>
        A patient diagnosed or suspected of a genetic disorder of immunity control, known as APECED&#xD;
        syndrome (Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy) or autoimmune&#xD;
        polyendocrinopathy type 1,&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  patients with at least 2 major criteria out of the following 3: hypoparathyroidism of&#xD;
             autoimmune origin, adrenal insufficiency of autoimmune origin, chronic cutaneous and&#xD;
             mucosal candidiasis.&#xD;
&#xD;
          -  patients with only 1 of the 3 major criteria, associated with at least 2 of the&#xD;
             following minor criteria: hypergonadotropic hypogonadism of autoimmune origin,&#xD;
             atrophic gastritis, malabsorption, autoimmune hepatitis, vitiligo, alopecia, chronic&#xD;
             keratoconjunctivitis, hypoplasia of dental enamel.&#xD;
&#xD;
          -  patients whose molecular diagnosis has been established or who will be established&#xD;
             during the inclusion visit with the genetic sample.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        -&#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>Emmanuelle Proust-Lemoine, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University Hospital, Lille</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>CHRU, Hôpital Claude Huriez</name>
      <address>
        <city>Lille</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>November 2018</verification_date>
  <study_first_submitted>November 21, 2018</study_first_submitted>
  <study_first_submitted_qc>November 21, 2018</study_first_submitted_qc>
  <study_first_posted type="Actual">November 23, 2018</study_first_posted>
  <last_update_submitted>May 11, 2020</last_update_submitted>
  <last_update_submitted_qc>May 11, 2020</last_update_submitted_qc>
  <last_update_posted type="Actual">May 12, 2020</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>Polyendocrinopathies, Autoimmune</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </patient_data>
  <!-- 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/NCT03751683
org study id: 2008_30/0915
secondary id: 2009-A00197-50
nct id: NCT03751683
lead sponsor: 
collaborator: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The objective of the study will define the mutational spectrum in this French cohort, in
      patients with APECED syndrome genetically authenticated
observational model: Cohort
time perspective: Prospective
measure: allelic frequency of the mutation c.967-979del13 of the AIRE gene
time frame: Baseline: one session
measure: total number of cases recognized APECED syndrome regardless of the diagnostic criteria used.
time frame: Baseline: one session
measure: correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome.
time frame: Baseline: one session
measure: correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome.
time frame: Baseline: one session
measure: prevalence of types of antibodies found on APECED syndrome.
time frame: Baseline: one session
measure: the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome.
time frame: Baseline: one session
measure: proportion of patients with a molecular diagnosis of positive APECED syndrome, among patients presenting our new diagnostic criteria (a major criterion and at least 2 criteria
time frame: Baseline: one session
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Emmanuelle Proust-Lemoine, MD
role: Principal Investigator
affiliation: University Hospital, Lille
facility: 
country: France
responsible party type: Sponsor
mesh term: Polyendocrinopathies, Autoimmune
sharing ipd: No