<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/NCT03262129</url>
  </required_header>
  <id_info>
    <org_study_id>GOUDET PARI 2011</org_study_id>
    <nct_id>NCT03262129</nct_id>
  </id_info>
  <brief_title>Type 1 Multiple Endocrine Neoplasia Cohort Study</brief_title>
  <acronym>MEN1-GTEcohort</acronym>
  <official_title>Type 1 Multiple Endocrine Neoplasia : a Cohort Study of the Endocrine Tumor Study Group (GTE)</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>
  <brief_summary>
    <textblock>
      Type 1 - Multiple Endocrine Neoplasia syndrome (MEN1,) is an autosomal dominant disorder&#xD;
      secondary to MEN1 mutations that predisposes carriers to endocrine tumors. The MEN1 gene&#xD;
      located on chromosome 11q13 encodes menin, a 610 amino acid protein expressed in all tissues&#xD;
      tested. Menin is a scaffold protein which interacts with a large number of intracellular&#xD;
      molecules. MEN1 disease may display various clinical associations The tumors mainly develop&#xD;
      from endocrine tissues and may arise from parathyroid glands, duodeno-pancreas, pituitary&#xD;
      gland, adrenal glands, and at a lower frequency from the bronchi and thymus. The penetrance&#xD;
      is very progressive but ultimately high during a lifespan.&#xD;
&#xD;
      Although the syndrome was discovered in 1903 by Erdheim and properly documented in 1954 by&#xD;
      Wermer, it was only in the 1970s that the variety of clinical presentations was acknowledged&#xD;
      and first attempts to codify treatments were made. Most published studies deals with selected&#xD;
      and small size populations. Thus, many aspects of the natural history of MEN1 remains unknown&#xD;
      as well as the optimal care of patients. In addition, although advances in genetics improved&#xD;
      the diagnosis of MEN1, there are still clinical forms whose attachment to the syndrome is&#xD;
      difficult: atypical, paucisymptomatic, forms the negative genetic diagnosis (10%). These&#xD;
      clinical forms need to be clarified to ensure optimum support.&#xD;
&#xD;
      This cohort relies on the Groupe d'étude des Tumeurs Endocrines (GTE) network for MEN1,&#xD;
      created in February 1991, and brings together clinical centers in France and Belgium (n=80)&#xD;
      as well as the four genetics laboratories in charge of MEN1 diagnosis. It aims at improving&#xD;
      the knowledge of the MEN1mainly in describing:&#xD;
&#xD;
        -  its evolution over time globally and according to the initial presentation, (&#xD;
           particularly accounting the risk of the occurrence of secondary MEN1 related or&#xD;
           unrelated tumors, and death)&#xD;
&#xD;
        -  the genotype-phenotype correlations and heritability of the disease&#xD;
&#xD;
        -  the real life management of patients and its impact on cure and survival for each type&#xD;
           of MEN1-related tumor&#xD;
&#xD;
        -  the impact of the NEM on the patients' daily lives, their perception of the disease and&#xD;
           their satisfaction with their care&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Recruiting</last_known_status>
  <start_date type="Actual">January 1, 2012</start_date>
  <completion_date type="Anticipated">December 2020</completion_date>
  <primary_completion_date type="Anticipated">January 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>Vital status</measure>
    <time_frame>12 months</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>MEN-1 related tumors</measure>
    <time_frame>12 months</time_frame>
  </primary_outcome>
  <enrollment type="Anticipated">2000</enrollment>
  <condition>Type 1-Multiple Endocrine Neoplasia Syndrome</condition>
  <eligibility>
    <study_pop>
      <textblock>
        Patients followed&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Patients with MEN1 according to the Gubbio criteria :&#xD;
&#xD;
          -  Patients with a MEN1 mutation and presenting at least one of the following symptomatic&#xD;
             or silent lesions: pHPT or pancreatic or duodenal endocrine tumor&#xD;
&#xD;
          -  Pituitary tumor&#xD;
&#xD;
          -  Adrenal tumor&#xD;
&#xD;
          -  th-NET&#xD;
&#xD;
          -  br-NET&#xD;
&#xD;
          -  And gastric enterochromaffin-like tumor (ECLoma).&#xD;
&#xD;
          -  Patients belonging to a known MEN1 family (at least one first-degree relative&#xD;
             affected) and presenting at least one of the aforementioned lesions.&#xD;
&#xD;
          -  Patients without positive genetic testing or a family background presenting at least&#xD;
             two of the three major MEN1 lesions (pHPT, pancreatic, or duodenal endocrine tumor,&#xD;
             pituitary tumor).:&#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>GOUDET Pierre</last_name>
    <email>pierre.goudet@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>Pierre GOUDET</last_name>
      <email>pierre.goudet@chu-dijon.fr</email>
    </contact>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>August 2017</verification_date>
  <study_first_submitted>August 31, 2016</study_first_submitted>
  <study_first_submitted_qc>August 23, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">August 25, 2017</study_first_posted>
  <last_update_submitted>August 23, 2017</last_update_submitted>
  <last_update_submitted_qc>August 23, 2017</last_update_submitted_qc>
  <last_update_posted type="Actual">August 25, 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>Neoplasms</mesh_term>
    <mesh_term>Endocrine Gland Neoplasms</mesh_term>
    <mesh_term>Multiple Endocrine Neoplasia</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/NCT03262129
org study id: GOUDET PARI 2011
nct id: NCT03262129
lead sponsor: 
Type 1 - Multiple Endocrine Neoplasia syndrome (MEN1,) is an autosomal dominant disorder
      secondary to MEN1 mutations that predisposes carriers to endocrine tumors. The MEN1 gene
      located on chromosome 11q13 encodes menin, a 610 amino acid protein expressed in all tissues
      tested. Menin is a scaffold protein which interacts with a large number of intracellular
      molecules. MEN1 disease may display various clinical associations The tumors mainly develop
      from endocrine tissues and may arise from parathyroid glands, duodeno-pancreas, pituitary
      gland, adrenal glands, and at a lower frequency from the bronchi and thymus. The penetrance
      is very progressive but ultimately high during a lifespan.

      Although the syndrome was discovered in 1903 by Erdheim and properly documented in 1954 by
      Wermer, it was only in the 1970s that the variety of clinical presentations was acknowledged
      and first attempts to codify treatments were made. Most published studies deals with selected
      and small size populations. Thus, many aspects of the natural history of MEN1 remains unknown
      as well as the optimal care of patients. In addition, although advances in genetics improved
      the diagnosis of MEN1, there are still clinical forms whose attachment to the syndrome is
      difficult: atypical, paucisymptomatic, forms the negative genetic diagnosis (10%). These
      clinical forms need to be clarified to ensure optimum support.

      This cohort relies on the Groupe d'étude des Tumeurs Endocrines (GTE) network for MEN1,
      created in February 1991, and brings together clinical centers in France and Belgium (n=80)
      as well as the four genetics laboratories in charge of MEN1 diagnosis. It aims at improving
      the knowledge of the MEN1mainly in describing:

        -  its evolution over time globally and according to the initial presentation, (
           particularly accounting the risk of the occurrence of secondary MEN1 related or
           unrelated tumors, and death)

        -  the genotype-phenotype correlations and heritability of the disease

        -  the real life management of patients and its impact on cure and survival for each type
           of MEN1-related tumor

        -  the impact of the NEM on the patients' daily lives, their perception of the disease and
           their satisfaction with their care
observational model: Cohort
time perspective: Prospective
measure: Vital status
time frame: 12 months
measure: MEN-1 related tumors
time frame: 12 months
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: GOUDET Pierre
email: pierre.goudet@chu-dijon.fr
facility: 
status: Recruiting
contact: 
country: France
responsible party type: Sponsor
mesh term: Neoplasms
mesh term: Endocrine Gland Neoplasms
mesh term: Multiple Endocrine Neoplasia