<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/NCT04476225</url>
  </required_header>
  <id_info>
    <org_study_id>19-27665</org_study_id>
    <nct_id>NCT04476225</nct_id>
  </id_info>
  <brief_title>Induced Pluripotent Stem Cells for Disease Research</brief_title>
  <official_title>Induced Pluripotent Stem Cells for Disease Research</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of California, San Francisco</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University of California, San Francisco</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 aim of this study is to determine the contribution of genetic factors to the pathogenesis&#xD;
      of diseases, including diseases such as Parkinson's disease, Hirschsprung's disease, and&#xD;
      autism. Patient-derived cellular models of diseases will be developed, which will require the&#xD;
      collection of blood samples from patients and healthy individuals in order to generate&#xD;
      induced pluripotent stem cells (iPSCs) for the development of iPSC-derived human cell&#xD;
      cultures. These human cellular models will be phenotyped using a variety of methods,&#xD;
      including cellular, molecular, and biochemical assays. Because these human cellular models&#xD;
      will retain the genetic background from the patients and control subjects, this will allow us&#xD;
      to determine the contribution of genetics to disease phenotypes. Such disease-specific&#xD;
      pluripotent stem cell lines will be invaluable tools for many basic and translational&#xD;
      research applications, including pathophysiological studies in a developmental context, and&#xD;
      innovation and screening of small molecule drugs capable of reversing the disease phenotype&#xD;
      and potentially leading to a cure for a broad range of diseases, where appropriate in vitro&#xD;
      or in vivo disease models do not exist.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">April 15, 2022</start_date>
  <completion_date type="Actual">October 3, 2022</completion_date>
  <primary_completion_date type="Actual">October 3, 2022</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>Cross-Sectional</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Whole blood sample collection</measure>
    <time_frame>52 weeks after sample collection</time_frame>
    <description>Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>iPSC disease modeling</measure>
    <time_frame>200 weeks after sample collection</time_frame>
    <description>Use patient-derived iPSCs to develop models of human diseases and to determine the contribution of patient genetic factors to disease pathogenesis</description>
  </primary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Actual">1</enrollment>
  <condition>Hirschsprung Disease</condition>
  <arm_group>
    <arm_group_label>Individuals with Hirschsprung Disease</arm_group_label>
    <description>Individuals with Hirschsprung disease</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Unaffected Relatives</arm_group_label>
    <description>Unaffected relatives of individuals with Hirschsprung disease</description>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      whole blood&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Individuals with Hirschsprung disease and their unaffacted family members&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Individuals with Hirschsprung disease&#xD;
&#xD;
          -  Any disease severity accepted&#xD;
&#xD;
          -  Individuals with or without other health issues accepted&#xD;
&#xD;
          -  Unaffected / healthy relatives of individuals with Hirschsprung disease&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Individuals who are unwilling or unable to provide blood sample&#xD;
&#xD;
          -  Individuals who are unwilling or unable to provide informed consent&#xD;
&#xD;
          -  Individuals who are outside the age range permitted for our study will be excluded.&#xD;
             Our study will only perform blood draws from individuals ages 13 and above.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>13 Years</minimum_age>
    <maximum_age>100 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Steve Finkbeiner, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University of California, San Francisco</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>University of California, San Francisco</name>
      <address>
        <city>San Francisco</city>
        <state>California</state>
        <zip>94158</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>October 2022</verification_date>
  <study_first_submitted>July 14, 2020</study_first_submitted>
  <study_first_submitted_qc>July 14, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 20, 2020</study_first_posted>
  <last_update_submitted>October 4, 2022</last_update_submitted>
  <last_update_submitted_qc>October 4, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">October 6, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Hirschsprung Disease</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Hirschsprung Disease</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/NCT04476225
org study id: 19-27665
nct id: NCT04476225
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The aim of this study is to determine the contribution of genetic factors to the pathogenesis
      of diseases, including diseases such as Parkinson's disease, Hirschsprung's disease, and
      autism. Patient-derived cellular models of diseases will be developed, which will require the
      collection of blood samples from patients and healthy individuals in order to generate
      induced pluripotent stem cells (iPSCs) for the development of iPSC-derived human cell
      cultures. These human cellular models will be phenotyped using a variety of methods,
      including cellular, molecular, and biochemical assays. Because these human cellular models
      will retain the genetic background from the patients and control subjects, this will allow us
      to determine the contribution of genetics to disease phenotypes. Such disease-specific
      pluripotent stem cell lines will be invaluable tools for many basic and translational
      research applications, including pathophysiological studies in a developmental context, and
      innovation and screening of small molecule drugs capable of reversing the disease phenotype
      and potentially leading to a cure for a broad range of diseases, where appropriate in vitro
      or in vivo disease models do not exist.
observational model: Case-Control
time perspective: Cross-Sectional
measure: Whole blood sample collection
time frame: 52 weeks after sample collection
description: Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs.
measure: iPSC disease modeling
time frame: 200 weeks after sample collection
description: Use patient-derived iPSCs to develop models of human diseases and to determine the contribution of patient genetic factors to disease pathogenesis
arm group label: Individuals with Hirschsprung Disease
description: Individuals with Hirschsprung disease
arm group label: Unaffected Relatives
description: Unaffected relatives of individuals with Hirschsprung disease
whole blood
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 13 Years
maximum age: 100 Years
healthy volunteers: Accepts Healthy Volunteers
last name: Steve Finkbeiner, MD, PhD
role: Principal Investigator
affiliation: University of California, San Francisco
facility: 
country: United States
responsible party type: Sponsor
mesh term: Hirschsprung Disease
sharing ipd: No