<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/NCT04488406</url>
  </required_header>
  <id_info>
    <org_study_id>GeneGO</org_study_id>
    <nct_id>NCT04488406</nct_id>
  </id_info>
  <brief_title>Genetics and Epigenetics of Graves' Orbitopathy</brief_title>
  <acronym>GeneGO</acronym>
  <official_title>Genetics and Epigenetics of Graves' Orbitopathy</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of Pisa</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University of Pisa</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>
      Graves' orbitopathy (GO) is an autoimmune disease persisting when immunosuppression is&#xD;
      achieved. Orbital fibroblasts from GO patients display peculiar phenotypes even if not&#xD;
      exposed to autoimmunity, possibly reflecting genetic or epigenetic mechanisms, to be&#xD;
      investigated here.&#xD;
&#xD;
      Primary cultures of orbital fibroblasts from GO and control patients will be established.&#xD;
      Cell proliferation, release of hyaluronic acid (HA) and HA synthases (HAS) will be measured.&#xD;
      Next Generation Sequencing and gene expression analysis of the whole genome will be&#xD;
      performed, as well as global DNA methylation assay.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The investigators will establish primary cultures of orbital fibroblasts from orbital adipose&#xD;
      tissue samples taken from six GO patients who underwent orbital decompressive surgery. Normal&#xD;
      orbital tissue samples will be collected from six patients undergoing eye surgery for&#xD;
      unrelated reasons.&#xD;
&#xD;
      Cell proliferation and HA will be measured using commercial assays DNA and RNA will be&#xD;
      extracted. HAS-1, HAS-2 and HAS-3 will be measured were assessed by Real Time-PCR Next&#xD;
      Generation Sequencing, Gene expression analysis and DNA methylation assays will be performed&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">January 1, 2020</start_date>
  <completion_date type="Actual">March 31, 2020</completion_date>
  <primary_completion_date type="Actual">March 31, 2020</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Case-Control</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Gene expression</measure>
    <time_frame>Baseline</time_frame>
    <description>Gene expression in patients vs controls</description>
  </primary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Actual">12</enrollment>
  <condition>Graves Ophthalmopathy</condition>
  <arm_group>
    <arm_group_label>Graves' Orbitopathy</arm_group_label>
    <description>Graves' Orbitopathy patients who undergoing orbital decompressive surgery</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Control Patients</arm_group_label>
    <description>Patients undergoing eye surgery for unrelated reasons</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>No Intervention</intervention_name>
    <description>Not applicable to these subjects. There is no study-related intervention</description>
    <arm_group_label>Control Patients</arm_group_label>
    <arm_group_label>Graves' Orbitopathy</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Patients with Graves' orbitopathy undergoing decompressione surgery&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Diagnosis of Graves' Orbitopathy&#xD;
&#xD;
          -  Informed consent&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        -Lack of informed consent&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>85 Years</maximum_age>
  </eligibility>
  <location>
    <facility>
      <name>Ospedale Cisanello-Endocrinology I and II</name>
      <address>
        <city>Pisa</city>
        <zip>56124</zip>
        <country>Italy</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Italy</country>
  </location_countries>
  <verification_date>July 2020</verification_date>
  <study_first_submitted>July 17, 2020</study_first_submitted>
  <study_first_submitted_qc>July 22, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 28, 2020</study_first_posted>
  <last_update_submitted>July 22, 2020</last_update_submitted>
  <last_update_submitted_qc>July 22, 2020</last_update_submitted_qc>
  <last_update_posted type="Actual">July 28, 2020</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>University of Pisa</investigator_affiliation>
    <investigator_full_name>Marinò Michele</investigator_full_name>
    <investigator_title>Associate Professor</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Eye Diseases</mesh_term>
    <mesh_term>Graves Ophthalmopathy</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/NCT04488406
org study id: GeneGO
nct id: NCT04488406
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Graves' orbitopathy (GO) is an autoimmune disease persisting when immunosuppression is
      achieved. Orbital fibroblasts from GO patients display peculiar phenotypes even if not
      exposed to autoimmunity, possibly reflecting genetic or epigenetic mechanisms, to be
      investigated here.

      Primary cultures of orbital fibroblasts from GO and control patients will be established.
      Cell proliferation, release of hyaluronic acid (HA) and HA synthases (HAS) will be measured.
      Next Generation Sequencing and gene expression analysis of the whole genome will be
      performed, as well as global DNA methylation assay.
The investigators will establish primary cultures of orbital fibroblasts from orbital adipose
      tissue samples taken from six GO patients who underwent orbital decompressive surgery. Normal
      orbital tissue samples will be collected from six patients undergoing eye surgery for
      unrelated reasons.

      Cell proliferation and HA will be measured using commercial assays DNA and RNA will be
      extracted. HAS-1, HAS-2 and HAS-3 will be measured were assessed by Real Time-PCR Next
      Generation Sequencing, Gene expression analysis and DNA methylation assays will be performed
observational model: Case-Control
time perspective: Prospective
measure: Gene expression
time frame: Baseline
description: Gene expression in patients vs controls
arm group label: Graves' Orbitopathy
description: Graves' Orbitopathy patients who undergoing orbital decompressive surgery
arm group label: Control Patients
description: Patients undergoing eye surgery for unrelated reasons
intervention type: Other
intervention name: No Intervention
description: Not applicable to these subjects. There is no study-related intervention
arm group label: Control Patients
arm group label: Graves' Orbitopathy
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: 85 Years
facility: 
country: Italy
responsible party type: Principal Investigator
investigator affiliation: University of Pisa
investigator full name: Marinò Michele
investigator title: Associate Professor
mesh term: Eye Diseases
mesh term: Graves Ophthalmopathy
sharing ipd: No