<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/NCT01716845</url>
  </required_header>
  <id_info>
    <org_study_id>12001</org_study_id>
    <nct_id>NCT01716845</nct_id>
  </id_info>
  <brief_title>SynapDx Autism Gene Expression Analysis Study</brief_title>
  <acronym>SAGA</acronym>
  <official_title>SynapDx Autism Spectrum Disorder Gene Expression Analysis Study</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>SynapDx</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>SynapDx</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      This study will prospectively enroll approximately 660 children, at least 18 months and less&#xD;
      than 5 years of age, who have been referred to a pediatric developmental evaluation centers.&#xD;
      Enrolled children will have blood drawn for RNA gene expression analysis and undergo a&#xD;
      clinical evaluation to determine the presence or absence of a diagnosis of ASD.&#xD;
&#xD;
      The sequential co-primary objectives of this study are:&#xD;
&#xD;
        -  To develop an algorithm to classify blood RNA gene expression patterns to maximize&#xD;
           agreement between the classification and a clinical assessment of presence or absence of&#xD;
           Autism Spectrum Disorders (ASD).&#xD;
&#xD;
        -  To prospectively assess the clinical sensitivity and specificity of the blood RNA gene&#xD;
           expression classification algorithm (the SDX-002 test) in children referred to a&#xD;
           developmental evaluation clinic for a possible developmental disorder.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date>October 2012</start_date>
  <completion_date type="Actual">December 2014</completion_date>
  <primary_completion_date type="Actual">December 2014</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>RNA gene expression in peripheral blood</measure>
    <time_frame>within 30 days of collection</time_frame>
  </primary_outcome>
  <number_of_groups>4</number_of_groups>
  <enrollment type="Anticipated">660</enrollment>
  <condition>Autism</condition>
  <arm_group>
    <arm_group_label>Development group 1</arm_group_label>
  </arm_group>
  <arm_group>
    <arm_group_label>Development group 2</arm_group_label>
  </arm_group>
  <arm_group>
    <arm_group_label>Development group 3</arm_group_label>
  </arm_group>
  <arm_group>
    <arm_group_label>Validation group</arm_group_label>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      DNA, RNA&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Children 18 months to &lt; 5 years referred to a developmental evaluation centers for&#xD;
        evaluation of a possible developmental disorder.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. Referred to a developmental evaluation centers for evaluation of a possible&#xD;
             developmental disorder, other than isolated motor problems.&#xD;
&#xD;
          2. Age &gt;= 18 months and &lt; 5 years.&#xD;
&#xD;
          3. Parent/legal guardian has been informed about the study and has signed an informed&#xD;
             consent form.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          1. Prior reliable diagnosis of Autism Spectrum Disorder (i.e. prior evaluation by a&#xD;
             multi-disciplinary team has already reliably established Autism Spectrum Disorder&#xD;
             diagnosis).&#xD;
&#xD;
          2. Unable or unwilling to complete study procedures&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Months</minimum_age>
    <maximum_age>5 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>Children's Hospital Boston</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02115</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>December 2014</verification_date>
  <study_first_submitted>October 23, 2012</study_first_submitted>
  <study_first_submitted_qc>October 29, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">October 30, 2012</study_first_posted>
  <last_update_submitted>December 15, 2014</last_update_submitted>
  <last_update_submitted_qc>December 15, 2014</last_update_submitted_qc>
  <last_update_posted type="Estimate">December 17, 2014</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>autism</keyword>
  <keyword>autism spectrum disorders</keyword>
  <keyword>RNA</keyword>
  <keyword>gene expression</keyword>
  <keyword>developmental delay</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Autistic Disorder</mesh_term>
    <mesh_term>Autism Spectrum Disorder</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/NCT01716845
org study id: 12001
nct id: NCT01716845
lead sponsor: 
has dmc: No
This study will prospectively enroll approximately 660 children, at least 18 months and less
      than 5 years of age, who have been referred to a pediatric developmental evaluation centers.
      Enrolled children will have blood drawn for RNA gene expression analysis and undergo a
      clinical evaluation to determine the presence or absence of a diagnosis of ASD.

      The sequential co-primary objectives of this study are:

        -  To develop an algorithm to classify blood RNA gene expression patterns to maximize
           agreement between the classification and a clinical assessment of presence or absence of
           Autism Spectrum Disorders (ASD).

        -  To prospectively assess the clinical sensitivity and specificity of the blood RNA gene
           expression classification algorithm (the SDX-002 test) in children referred to a
           developmental evaluation clinic for a possible developmental disorder.
observational model: Cohort
time perspective: Prospective
measure: RNA gene expression in peripheral blood
time frame: within 30 days of collection
arm group label: Development group 1
arm group label: Development group 2
arm group label: Development group 3
arm group label: Validation group
DNA, RNA
study pop: 
sampling method: Probability Sample
criteria: 
gender: All
minimum age: 18 Months
maximum age: 5 Years
healthy volunteers: No
facility: 
country: United States
responsible party type: Sponsor
mesh term: Autistic Disorder
mesh term: Autism Spectrum Disorder