<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/NCT03039335</url>
  </required_header>
  <id_info>
    <org_study_id>16001</org_study_id>
    <secondary_id>Pro00019289</secondary_id>
    <nct_id>NCT03039335</nct_id>
  </id_info>
  <brief_title>The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency</brief_title>
  <official_title>The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency: Assessing the Association Between Diagnostic Delay and Worsened Clinical Status</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Biocerna LLC</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Biocerna LLC</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The objective of this study is to prospectively assess whether there is any interval between&#xD;
      first symptom and initial diagnosis that is experienced by patients with newly diagnosed&#xD;
      alpha-1 antitrypsin deficiency (AATD) and then to assess whether this diagnostic interval is&#xD;
      associated with worsened clinical status at the time of initial diagnosis.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The study protocol proposes to assess participants' clinical status based on the results of&#xD;
      spirometry tests that are performed by the patient's managing physician as a routine part of&#xD;
      clinical care of individuals with AATD within +/- 6 months of the initial diagnosis,&#xD;
      subjects' St. George's Respiratory Questionnaire (SGRQ) at the time of initial diagnosis, and&#xD;
      their COPD Assessment Test (CAT) result at the time of initial diagnosis of AATD (hereafter&#xD;
      called &quot;time zero&quot; or T0 defined as the day on which the patient's test shows AATD from the&#xD;
      blood work submitted for testing to Biocerna LLC by the patients' managing physicians as part&#xD;
      of their routine clinical management). After offering verbal consent, subjects will complete&#xD;
      a survey that assesses various clinical domains, including demographic features, how was AATD&#xD;
      ascertained, initial symptom ascribable to AATD, the number of healthcare providers (and&#xD;
      specific types of providers) seen before initial diagnosis, and clinical status at T0 or&#xD;
      within a defined, relatively narrow temporal window (+/- 6 months) of T0. As in prior&#xD;
      studies, the diagnostic interval will be defined as the duration between self-reported&#xD;
      initial symptom of AATD (usually dyspnea in &gt; 80% of cases3) and initial confirmed diagnosis&#xD;
      of AATD (T0).&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">December 15, 2016</start_date>
  <completion_date type="Actual">April 15, 2018</completion_date>
  <primary_completion_date type="Actual">April 15, 2018</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>Retrospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Recruitment</measure>
    <time_frame>3 months</time_frame>
    <description>Track the number of subjects enrolled to determine if recruitment strategies need to be altered.</description>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">43</enrollment>
  <condition>Alpha 1-Antitrypsin Deficiency</condition>
  <arm_group>
    <arm_group_label>Adults with an AAT Deficiency</arm_group_label>
    <description>Subjects over the age of 18 that have been recently diagnosed with an Alpha-1 Antitrypsin deficiency will be enrolled into the study to observe the interval between first symptom and initial diagnosis.</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        AATD Positive Adult Subjects&#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;
          -  Positive AATD Test Result&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Previous Positive AATD Test Result&#xD;
&#xD;
          -  Negative Test Result for AATD&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Christopher Sanders</last_name>
    <role>Principal Investigator</role>
    <affiliation>CEO of Biocerna LLC</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Biocerna LLC</name>
      <address>
        <city>Fulton</city>
        <state>Maryland</state>
        <zip>20759</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>January 2018</verification_date>
  <study_first_submitted>January 31, 2017</study_first_submitted>
  <study_first_submitted_qc>January 31, 2017</study_first_submitted_qc>
  <study_first_posted type="Estimate">February 1, 2017</study_first_posted>
  <last_update_submitted>July 13, 2018</last_update_submitted>
  <last_update_submitted_qc>July 13, 2018</last_update_submitted_qc>
  <last_update_posted type="Actual">July 16, 2018</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>Alpha 1-Antitrypsin Deficiency</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/NCT03039335
org study id: 16001
secondary id: Pro00019289
nct id: NCT03039335
lead sponsor: 
has dmc: No
The objective of this study is to prospectively assess whether there is any interval between
      first symptom and initial diagnosis that is experienced by patients with newly diagnosed
      alpha-1 antitrypsin deficiency (AATD) and then to assess whether this diagnostic interval is
      associated with worsened clinical status at the time of initial diagnosis.
The study protocol proposes to assess participants' clinical status based on the results of
      spirometry tests that are performed by the patient's managing physician as a routine part of
      clinical care of individuals with AATD within +/- 6 months of the initial diagnosis,
      subjects' St. George's Respiratory Questionnaire (SGRQ) at the time of initial diagnosis, and
      their COPD Assessment Test (CAT) result at the time of initial diagnosis of AATD (hereafter
      called "time zero" or T0 defined as the day on which the patient's test shows AATD from the
      blood work submitted for testing to Biocerna LLC by the patients' managing physicians as part
      of their routine clinical management). After offering verbal consent, subjects will complete
      a survey that assesses various clinical domains, including demographic features, how was AATD
      ascertained, initial symptom ascribable to AATD, the number of healthcare providers (and
      specific types of providers) seen before initial diagnosis, and clinical status at T0 or
      within a defined, relatively narrow temporal window (+/- 6 months) of T0. As in prior
      studies, the diagnostic interval will be defined as the duration between self-reported
      initial symptom of AATD (usually dyspnea in > 80% of cases3) and initial confirmed diagnosis
      of AATD (T0).
observational model: Cohort
time perspective: Retrospective
measure: Recruitment
time frame: 3 months
description: Track the number of subjects enrolled to determine if recruitment strategies need to be altered.
arm group label: Adults with an AAT Deficiency
description: Subjects over the age of 18 that have been recently diagnosed with an Alpha-1 Antitrypsin deficiency will be enrolled into the study to observe the interval between first symptom and initial diagnosis.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Christopher Sanders
role: Principal Investigator
affiliation: CEO of Biocerna LLC
facility: 
country: United States
responsible party type: Sponsor
mesh term: Alpha 1-Antitrypsin Deficiency
sharing ipd: No