<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/NCT01663584</url>
  </required_header>
  <id_info>
    <org_study_id>Natera014</org_study_id>
    <nct_id>NCT01663584</nct_id>
  </id_info>
  <brief_title>Multi-disease Carrier Screening Test Validation</brief_title>
  <official_title>Collection of Blood Samples for Development of Multi-disease Carrier Testing</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Natera, Inc.</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Natera, Inc.</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The purpose of this study is to collect blood samples to enable validation of genetic testing&#xD;
      for diseases within a multi-disease carrier screening panel. Samples will be collected from&#xD;
      adult women or men who have previously tested positive as carriers for various recessive&#xD;
      conditions. These are healthy adults who carry a mutation that might place them at increased&#xD;
      risk of having a child with a specific genetic disorder. Study participation will be open to&#xD;
      adults that were previously tested as part of their routine medical care and where test&#xD;
      results demonstrated positive carrier status for a specific genetic disease. Samples will be&#xD;
      tested for the disease mutation for which the subjects provides documentation of prior&#xD;
      testing.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Withdrawn</overall_status>
  <why_stopped>
    Samples were not needed for test development, therefore subjects were not recruited or enrolled&#xD;
  </why_stopped>
  <start_date>August 2012</start_date>
  <primary_completion_date type="Actual">June 2013</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <enrollment type="Actual">0</enrollment>
  <condition>Spinal Muscular Atrophy (SMA)</condition>
  <condition>Carrier Screening</condition>
  <condition>Genetic Testing</condition>
  <intervention>
    <intervention_type>Procedure</intervention_type>
    <intervention_name>Blood draw</intervention_name>
  </intervention>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      De-identified samples may be retained for future research.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Study participation will be open to individuals who have tested positive for carrier status&#xD;
        of a specific genetic disease or mutation and are able to provide documentation of their&#xD;
        test results.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  18 years of age or older&#xD;
&#xD;
          -  Individuals who are carriers of an SMN1 deletion consistent with Spinal Muscular&#xD;
             Atrophy carrier status and are able to provide documentation of carrier status&#xD;
             determined from prior testing&#xD;
&#xD;
          -  Able to provide a blood sample&#xD;
&#xD;
          -  Pregnant women may be include in the study&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Minors under the age of 18 years&#xD;
&#xD;
          -  Individuals who are not carriers of a Spinal Muscular Atrophy mutation&#xD;
&#xD;
          -  Individuals who are unable to provide documentation of Spinal Muscular Atrophy carrier&#xD;
             status.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>Natera, Inc</name>
      <address>
        <city>San Carlos</city>
        <state>California</state>
        <zip>94070</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>July 2013</verification_date>
  <study_first_submitted>August 9, 2012</study_first_submitted>
  <study_first_submitted_qc>August 9, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">August 13, 2012</study_first_posted>
  <last_update_submitted>July 12, 2013</last_update_submitted>
  <last_update_submitted_qc>July 12, 2013</last_update_submitted_qc>
  <last_update_posted type="Estimate">July 16, 2013</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Spinal Muscular Atrophy (SMA)</keyword>
  <keyword>Carrier Screening</keyword>
  <keyword>Genetic Testing</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Muscular Atrophy</mesh_term>
    <mesh_term>Muscular Atrophy, Spinal</mesh_term>
    <mesh_term>Atrophy</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/NCT01663584
org study id: Natera014
nct id: NCT01663584
lead sponsor: 
has dmc: No
The purpose of this study is to collect blood samples to enable validation of genetic testing
      for diseases within a multi-disease carrier screening panel. Samples will be collected from
      adult women or men who have previously tested positive as carriers for various recessive
      conditions. These are healthy adults who carry a mutation that might place them at increased
      risk of having a child with a specific genetic disorder. Study participation will be open to
      adults that were previously tested as part of their routine medical care and where test
      results demonstrated positive carrier status for a specific genetic disease. Samples will be
      tested for the disease mutation for which the subjects provides documentation of prior
      testing.
intervention type: Procedure
intervention name: Blood draw
De-identified samples may be retained for future research.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
facility: 
country: United States
responsible party type: Sponsor
mesh term: Muscular Atrophy
mesh term: Muscular Atrophy, Spinal
mesh term: Atrophy