<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/NCT02222038</url>
  </required_header>
  <id_info>
    <org_study_id>KISPI-UZH-LLS-2014</org_study_id>
    <nct_id>NCT02222038</nct_id>
  </id_info>
  <brief_title>Genetic Variants in Linear Localized Scleroderma</brief_title>
  <official_title>Investigation of the Genetic Architecture of Linear Localized Scleroderma (LLS) (Linear Morphea) by Whole Exome Sequencing. A Tailored Approach to Test the Hypothesis That LLS is a Genetic Mosaic Condition</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Children's Hospital, Zurich</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Children's Hospital, Zurich</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The purpose of this study is to investigate the genetic architecture of Linear Localized&#xD;
      Scleroderma (LLS) (linear morphea) by whole exome sequencing.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      At present the etiology of LLS is unknown, but a genetic background is suspected. Although&#xD;
      LLS clearly classifies as a mosaic disorder, its genetics and protein machinery remain to be&#xD;
      understood.&#xD;
&#xD;
      We are going to use a tailored approach to identify the genetic factors of LLS. In the first&#xD;
      phase of the study we will investigate the genetic architecture in LLS. WES will analyze&#xD;
      whole protein coding DNA in skin samples of 50 consenting LLS patient. The aim is to identify&#xD;
      the key genes associated with LLS. In the second phase of the study subsequent functional&#xD;
      experiments will be performed. Based on the identified candidate genes, knockdown and&#xD;
      overexpression models will be created with relevant cell lines (fibroblasts) to identify the&#xD;
      biological consequences and confirm the functional relevance of the identified genetic&#xD;
      mutations in LLS. Further the protein network active in LLS will be investigated (proteomic&#xD;
      analysis).&#xD;
&#xD;
      The described basic genetic studies combined with functional experiments will lay the&#xD;
      groundwork for treatment trials to provide possibly novel treatment options.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date>August 2014</start_date>
  <completion_date type="Actual">October 31, 2017</completion_date>
  <primary_completion_date type="Actual">October 2017</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>N/A</allocation>
    <intervention_model>Single Group Assignment</intervention_model>
    <primary_purpose>Basic Science</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>number of key genes /number of mutations in LLS (localized linear scleroderma)</measure>
    <time_frame>24-30 months</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>the investigation of the protein network of the identified key genes in order to assess their biological function and their relevance in the pathogenesis of LLS.</measure>
    <time_frame>24-30 months</time_frame>
  </secondary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Anticipated">50</enrollment>
  <condition>Morphea</condition>
  <arm_group>
    <arm_group_label>skin biopsy</arm_group_label>
    <arm_group_type>Other</arm_group_type>
    <description>4mm punch biopsy</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>skin biopsy</intervention_name>
    <arm_group_label>skin biopsy</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Male or female subjects ≥ 5 years of age with well phenotyped LLS&#xD;
&#xD;
          -  Affecting their head and / or face &quot;termed &quot; en coup de sabre &quot; type LLS or&#xD;
             Hemiatrophia faciei or Parry-Romberg syndrome, with or without therapy&#xD;
&#xD;
          -  Affecting any site of the body except the head or face, with or without therapy&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients with signs of systemic scleroderma&#xD;
&#xD;
          -  Patients with localized scleroderma (morphea) other than the linear type&#xD;
             (&quot;plaque-type&quot;, &quot;morphea profunda&quot;, &quot;generalized morphea&quot;) Patients with diagnosed&#xD;
             gadolinium induced scleroderma Patients with post-irradiation scleroderma Patients&#xD;
             with missing consent&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>5 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Lisa Weibel, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Department Pediatric Dermatology University Children's Hospital Zurich</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>University Children's Hospital, Department of Pediatric Dermatology</name>
      <address>
        <city>Zurich</city>
        <zip>8032</zip>
        <country>Switzerland</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>University Hospital, Department of Dermatology</name>
      <address>
        <city>Zurich</city>
        <zip>8091</zip>
        <country>Switzerland</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Switzerland</country>
  </location_countries>
  <verification_date>November 2020</verification_date>
  <study_first_submitted>July 21, 2014</study_first_submitted>
  <study_first_submitted_qc>August 20, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">August 21, 2014</study_first_posted>
  <last_update_submitted>November 9, 2020</last_update_submitted>
  <last_update_submitted_qc>November 9, 2020</last_update_submitted_qc>
  <last_update_posted type="Actual">November 10, 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>Scleroderma, Localized</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/NCT02222038
org study id: KISPI-UZH-LLS-2014
nct id: NCT02222038
lead sponsor: 
has dmc: No
The purpose of this study is to investigate the genetic architecture of Linear Localized
      Scleroderma (LLS) (linear morphea) by whole exome sequencing.
At present the etiology of LLS is unknown, but a genetic background is suspected. Although
      LLS clearly classifies as a mosaic disorder, its genetics and protein machinery remain to be
      understood.

      We are going to use a tailored approach to identify the genetic factors of LLS. In the first
      phase of the study we will investigate the genetic architecture in LLS. WES will analyze
      whole protein coding DNA in skin samples of 50 consenting LLS patient. The aim is to identify
      the key genes associated with LLS. In the second phase of the study subsequent functional
      experiments will be performed. Based on the identified candidate genes, knockdown and
      overexpression models will be created with relevant cell lines (fibroblasts) to identify the
      biological consequences and confirm the functional relevance of the identified genetic
      mutations in LLS. Further the protein network active in LLS will be investigated (proteomic
      analysis).

      The described basic genetic studies combined with functional experiments will lay the
      groundwork for treatment trials to provide possibly novel treatment options.
allocation: N/A
intervention model: Single Group Assignment
primary purpose: Basic Science
masking: None (Open Label)
measure: number of key genes /number of mutations in LLS (localized linear scleroderma)
time frame: 24-30 months
measure: the investigation of the protein network of the identified key genes in order to assess their biological function and their relevance in the pathogenesis of LLS.
time frame: 24-30 months
arm group label: skin biopsy
arm group type: Other
description: 4mm punch biopsy
intervention type: Other
intervention name: skin biopsy
arm group label: skin biopsy
criteria: 
gender: All
minimum age: 5 Years
maximum age: N/A
healthy volunteers: No
last name: Lisa Weibel, MD
role: Principal Investigator
affiliation: Department Pediatric Dermatology University Children's Hospital Zurich
facility: 
facility: 
country: Switzerland
responsible party type: Sponsor
mesh term: Scleroderma, Localized