<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/NCT02252653</url>
  </required_header>
  <id_info>
    <org_study_id>ALN-TTR-NT-002</org_study_id>
    <nct_id>NCT02252653</nct_id>
  </id_info>
  <brief_title>DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis</brief_title>
  <official_title>DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Alnylam Pharmaceuticals</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Alnylam Pharmaceuticals</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The purpose of this study is to characterize the frequency of TTR mutations in subjects&#xD;
      suspected of having cardiac amyloidosis&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date>June 2014</start_date>
  <completion_date type="Actual">March 2016</completion_date>
  <primary_completion_date type="Actual">January 2016</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>Proportion of patients with of Transthyretin (TTR) mutations</measure>
    <time_frame>Baseline</time_frame>
    <description>Blood will be sequenced for the presence of TTR gene mutations</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Assessment of the presence of amyloid in tissue</measure>
    <time_frame>Day 30</time_frame>
    <description>An optional fine-needle aspirate of the abdominal fat pad will be collected</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Quantification of biomarkers of cardiac function in serum</measure>
    <time_frame>Day 30</time_frame>
    <description>Biomarkers that assess cardiac function will be quantified from serum</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Measurement of echocardiogram parameters</measure>
    <time_frame>Day 30</time_frame>
    <description>Cardiac structure and function will be measured by echocardiogram</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>New York Heart Association (NYHA) Functional Classification</measure>
    <time_frame>Day 30</time_frame>
    <description>NYHA Functional Classification will be determined</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Results from 6-Minute Walk Test</measure>
    <time_frame>Day 30</time_frame>
    <description>Total distance walked in 6 minutes will be measured</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">1010</enrollment>
  <condition>Familial Amyloidotic Cardiomyopathy (FAC)</condition>
  <arm_group>
    <arm_group_label>Familial Amyloidotic Cardiomyopathy (FAC)</arm_group_label>
  </arm_group>
  <biospec_retention>Samples Without DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Blood samples for TTR sequencing and cardiac function biomarkers; abdominal fat-pad aspirate&#xD;
      for amyloid presence (optional for TTR positive patients only)&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Subjects Suspected of Having Familial Amyloidotic Cardiomyopathy (FAC)&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Males or females &gt;18 years old&#xD;
&#xD;
          -  History of evidence suggestive of cardiac amyloidosis&#xD;
&#xD;
          -  Subject is willing and able to comply with protocol required assessments and provide&#xD;
             written informed consent&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Known diagnosis of primary (AL) amyloidosis&#xD;
&#xD;
          -  Known diagnosis of hereditary cardiomyopathy or cardiomyopathy due to aortic stenosis&#xD;
&#xD;
          -  Patient is currently pregnant&#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>Jared Gollob, MD</last_name>
    <role>Study Director</role>
    <affiliation>Alnylam Pharmaceuticals</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Little Rock</city>
        <state>Arkansas</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Bakersfield</city>
        <state>California</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>La Mesa</city>
        <state>California</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Los Angeles</city>
        <state>California</state>
        <zip>90073</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Los Angeles</city>
        <state>California</state>
        <zip>90095</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>San Francisco</city>
        <state>California</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Torrance</city>
        <state>California</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Aurora</city>
        <state>Colorado</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Washington</city>
        <state>District of Columbia</state>
        <zip>20010</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Washington</city>
        <state>District of Columbia</state>
        <zip>20052</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Washington</city>
        <state>District of Columbia</state>
        <zip>20422</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Tampa</city>
        <state>Florida</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Athens</city>
        <state>Georgia</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Atlanta</city>
        <state>Georgia</state>
        <zip>30303</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Atlanta</city>
        <state>Georgia</state>
        <zip>30310</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Macon</city>
        <state>Georgia</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Chicago</city>
        <state>Illinois</state>
        <zip>60611</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Chicago</city>
        <state>Illinois</state>
        <zip>60612</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Chicago</city>
        <state>Illinois</state>
        <zip>60637</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Merrillville</city>
        <state>Indiana</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Baltimore</city>
        <state>Maryland</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Springfield</city>
        <state>Massachusetts</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Detroit</city>
        <state>Michigan</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Jackson</city>
        <state>Mississippi</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>St. Louis</city>
        <state>Missouri</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Camden</city>
        <state>New Jersey</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Bronx</city>
        <state>New York</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Rochester</city>
        <state>New York</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Rosedale</city>
        <state>New York</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Williamsville</city>
        <state>New York</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Durham</city>
        <state>North Carolina</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Cleveland</city>
        <state>Ohio</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Philadelphia</city>
        <state>Pennsylvania</state>
        <zip>19102</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Philadelphia</city>
        <state>Pennsylvania</state>
        <zip>19104</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Pittsburgh</city>
        <state>Pennsylvania</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Charleston</city>
        <state>South Carolina</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Fort Worth</city>
        <state>Texas</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Plano</city>
        <state>Texas</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Falls Church</city>
        <state>Virginia</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Norfolk</city>
        <state>Virginia</state>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Richmond</city>
        <state>Virginia</state>
        <zip>23249</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Richmond</city>
        <state>Virginia</state>
        <zip>23298</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Anderlecht</city>
        <country>Belgium</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Brussels</city>
        <zip>1020</zip>
        <country>Belgium</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Hasselt</city>
        <country>Belgium</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Roeselare</city>
        <country>Belgium</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Blumenau</city>
        <country>Brazil</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Bordeaux</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Toulouse Cedex</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Vandoeuvre-lès-Nancy</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Barcelona</city>
        <zip>8003</zip>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Barcelona</city>
        <zip>8907</zip>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Madrid</city>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Seville</city>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Cardiff</city>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>London</city>
        <zip>NW1 2BU</zip>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>London</city>
        <zip>SW17 0QT</zip>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Belgium</country>
    <country>Brazil</country>
    <country>France</country>
    <country>Spain</country>
    <country>United Kingdom</country>
    <country>United States</country>
  </location_countries>
  <verification_date>July 2016</verification_date>
  <study_first_submitted>September 22, 2014</study_first_submitted>
  <study_first_submitted_qc>September 26, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 30, 2014</study_first_posted>
  <last_update_submitted>July 19, 2016</last_update_submitted>
  <last_update_submitted_qc>July 19, 2016</last_update_submitted_qc>
  <last_update_posted type="Estimate">July 20, 2016</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Cardiomyopathy</keyword>
  <keyword>Heart Failure</keyword>
  <keyword>FAC</keyword>
  <keyword>Amyloid</keyword>
  <keyword>Transthyretin (TTR)</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Cardiomyopathies</mesh_term>
    <mesh_term>Amyloidosis</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Undecided</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/NCT02252653
org study id: ALN-TTR-NT-002
nct id: NCT02252653
lead sponsor: 
has dmc: No
The purpose of this study is to characterize the frequency of TTR mutations in subjects
      suspected of having cardiac amyloidosis
observational model: Cohort
time perspective: Prospective
measure: Proportion of patients with of Transthyretin (TTR) mutations
time frame: Baseline
description: Blood will be sequenced for the presence of TTR gene mutations
measure: Assessment of the presence of amyloid in tissue
time frame: Day 30
description: An optional fine-needle aspirate of the abdominal fat pad will be collected
measure: Quantification of biomarkers of cardiac function in serum
time frame: Day 30
description: Biomarkers that assess cardiac function will be quantified from serum
measure: Measurement of echocardiogram parameters
time frame: Day 30
description: Cardiac structure and function will be measured by echocardiogram
measure: New York Heart Association (NYHA) Functional Classification
time frame: Day 30
description: NYHA Functional Classification will be determined
measure: Results from 6-Minute Walk Test
time frame: Day 30
description: Total distance walked in 6 minutes will be measured
arm group label: Familial Amyloidotic Cardiomyopathy (FAC)
Blood samples for TTR sequencing and cardiac function biomarkers; abdominal fat-pad aspirate
      for amyloid presence (optional for TTR positive patients only)
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Jared Gollob, MD
role: Study Director
affiliation: Alnylam Pharmaceuticals
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country: Belgium
country: Brazil
country: France
country: Spain
country: United Kingdom
country: United States
responsible party type: Sponsor
mesh term: Cardiomyopathies
mesh term: Amyloidosis
sharing ipd: Undecided