<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/NCT02213484</url>
  </required_header>
  <id_info>
    <org_study_id>14-0567</org_study_id>
    <secondary_id>UL1TR001082</secondary_id>
    <nct_id>NCT02213484</nct_id>
  </id_info>
  <brief_title>Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes</brief_title>
  <official_title>Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of Colorado, Denver</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University of Colorado, Denver</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 primary objective of this study is to determine whether specific patterns of circulating&#xD;
      micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in&#xD;
      patients with hereditary aortopathy syndromes. The most common of these syndromes is Marfan&#xD;
      Syndrome (MFS), but several other recognized aortopathy syndromes are well characterized. The&#xD;
      investigators propose the use of a simple blood test, from which miRNA profiles can be&#xD;
      measured in individuals with aortopathy syndromes to be compared with miRNAs observed in a&#xD;
      control population that has no known predisposition for aortic disease. The investigators&#xD;
      hypothesize that microRNA profiles in individuals with Marfan syndrome, and related&#xD;
      disorders, will be distinct from those seen in a control group. The investigators predict&#xD;
      that up- or down-regulation of certain miRNAs will correlate with the presence and severity&#xD;
      of aortic aneurysm, responses to medical therapy, and ultimately could be used to determine&#xD;
      when an individual may be at risk of dissection.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">July 1, 2014</start_date>
  <completion_date type="Actual">July 1, 2016</completion_date>
  <primary_completion_date type="Actual">July 1, 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>Plasma miRNA profiling in individuals with Marfan syndrome</measure>
    <time_frame>2 years</time_frame>
    <description>In a cross-sectional analysis, characterize circulating miRNA profiles in individuals with Marfan syndrome and compare to profiles in normal age-matched controls.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Plasma miRNA profiling in individuals with aortopathy syndromes</measure>
    <time_frame>3 years</time_frame>
    <description>In a cross-sectional analysis, characterize circulating miRNA profiles in individuals with aortopathy syndromes and compare to profiles in normal age-matched controls.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Correlation of plasma miRNA profiles with aortic dimensions</measure>
    <time_frame>2 years</time_frame>
    <description>In a cross-sectional analysis correlate miRNA profiles with aortic dimension and Z-score, type of medication used, history of aneurysm and/or dissection, and need for surgical intervention in individuals with MFS.</description>
  </secondary_outcome>
  <other_outcome>
    <measure>Correlation of plasma miRNA with progression of aortic aneurysm</measure>
    <time_frame>5 years</time_frame>
    <description>Correlate miRNA patterns with changes in aortic dimension and Z-score longitudinally at yearly time points.</description>
  </other_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Actual">20</enrollment>
  <condition>Marfan Syndrome</condition>
  <condition>Loeys-Dietz Syndrome</condition>
  <condition>Thoracic Aortic Aneurysm and Dissection Syndromes</condition>
  <condition>Ehlers-Danlos Type IV Syndrome</condition>
  <condition>Turner Syndrome</condition>
  <arm_group>
    <arm_group_label>Marfan syndrome</arm_group_label>
    <description>Individuals with a clinical diagnosis of Marfan syndrome</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Aortopathy syndrome</arm_group_label>
    <description>Individuals with one of the following clinical diagnoses: Loeys-Dietz syndrome, Turner syndrome, Ehlers-Danlos type IV syndrome, Thoracic Aortic Aneurysm and Dissection syndromes.</description>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Fractionated blood samples will be retained at a part of the study including plasma,&#xD;
      platelets and mononuclear cells. At this time genetic testing (genotyping) of individual&#xD;
      biospecimens is not included in the IRB-approved protocol.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        All individuals up to 60 years seen in the Children's Hospital of Colorado and University&#xD;
        Hospital Marfan Syndrome Clinics will be eligible for enrollment in this study. Individuals&#xD;
        with a clinical diagnosis of Marfan syndrome with or without genetic confirmation will be&#xD;
        included as will patients with recognized aortopathy syndromes or family history of&#xD;
        aortopathy with evidence of aorta disease. Subjects will be primarily recruited through the&#xD;
        Heart Institute at Children's Hospital Colorado and through the cardiology team at the&#xD;
        University of Colorado Hospital. Pediatric patients with Marfan syndrome and related&#xD;
        aortopathy syndromes are primarily followed in the Principal Investigator, Dr. Chatfield's,&#xD;
        Cardiac Genetics Clinic at Children's Hospital Colorado and will be recruited from this&#xD;
        clinic. Adult patients with aortopathy syndromes are followed primarily in the Adult&#xD;
        Congenital Heart Disease Clinic at University of Colorado Hospital.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria: To be in the study, the participant must meet the following criteria&#xD;
&#xD;
          1. Diagnosis of hereditary aortopathy based upon:&#xD;
&#xD;
               -  Confirmation of a disease causing mutation in a known aortopathy disorder OR&#xD;
&#xD;
               -  Confirmation of disease based on published clinical criteria&#xD;
&#xD;
          2. Participants is male or female and greater than 30 days old&#xD;
&#xD;
          3. Participants are able to undergo standard of care cardiac monitoring including an&#xD;
             echocardiogram&#xD;
&#xD;
          4. Willing and able to provide written informed consent by parent(s) or guardian(s) after&#xD;
             the nature of the study has been explained and prior to any research related&#xD;
             procedures&#xD;
&#xD;
          5. Signed HIPPA compliant research authorization&#xD;
&#xD;
        Exclusion Criteria: Participant will be excluded from the study for any of the following&#xD;
        criteria&#xD;
&#xD;
          1. Diagnosis of a hereditary aortopathy can not be confirmed&#xD;
&#xD;
          2. Existence of an additional comorbid condition- including a co-existing genetic&#xD;
             syndrome, heart failure, renal disease, rheumatologic disease, history of malignancy,&#xD;
             thyroid disease, recent stroke, other life-limiting illness not related to&#xD;
             cardiovascular disease.&#xD;
&#xD;
          3. Extreme prematurity, &lt;28 weeks gestational age&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>30 Days</minimum_age>
    <maximum_age>60 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Kathryn C Chatfield, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University of Colorado Denver, Children's Hospital Colorado</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Children's Hospital Colorado</name>
      <address>
        <city>Aurora</city>
        <state>Colorado</state>
        <zip>80045</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>University of Colorado Hospital</name>
      <address>
        <city>Aurora</city>
        <state>Colorado</state>
        <zip>80045</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>March 2017</verification_date>
  <study_first_submitted>August 7, 2014</study_first_submitted>
  <study_first_submitted_qc>August 8, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">August 11, 2014</study_first_posted>
  <last_update_submitted>March 14, 2017</last_update_submitted>
  <last_update_submitted_qc>March 14, 2017</last_update_submitted_qc>
  <last_update_posted type="Actual">March 15, 2017</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>aortopathy syndrome</keyword>
  <keyword>aortic aneurysm</keyword>
  <keyword>aortic dissection</keyword>
  <keyword>connective tissue disorder</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Marfan Syndrome</mesh_term>
    <mesh_term>Arachnodactyly</mesh_term>
    <mesh_term>Loeys-Dietz Syndrome</mesh_term>
    <mesh_term>Turner Syndrome</mesh_term>
    <mesh_term>Aneurysm</mesh_term>
    <mesh_term>Aortic Aneurysm</mesh_term>
    <mesh_term>Aortic Aneurysm, Thoracic</mesh_term>
    <mesh_term>Syndrome</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/NCT02213484
org study id: 14-0567
secondary id: UL1TR001082
nct id: NCT02213484
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The primary objective of this study is to determine whether specific patterns of circulating
      micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in
      patients with hereditary aortopathy syndromes. The most common of these syndromes is Marfan
      Syndrome (MFS), but several other recognized aortopathy syndromes are well characterized. The
      investigators propose the use of a simple blood test, from which miRNA profiles can be
      measured in individuals with aortopathy syndromes to be compared with miRNAs observed in a
      control population that has no known predisposition for aortic disease. The investigators
      hypothesize that microRNA profiles in individuals with Marfan syndrome, and related
      disorders, will be distinct from those seen in a control group. The investigators predict
      that up- or down-regulation of certain miRNAs will correlate with the presence and severity
      of aortic aneurysm, responses to medical therapy, and ultimately could be used to determine
      when an individual may be at risk of dissection.
observational model: Cohort
time perspective: Prospective
measure: Plasma miRNA profiling in individuals with Marfan syndrome
time frame: 2 years
description: In a cross-sectional analysis, characterize circulating miRNA profiles in individuals with Marfan syndrome and compare to profiles in normal age-matched controls.
measure: Plasma miRNA profiling in individuals with aortopathy syndromes
time frame: 3 years
description: In a cross-sectional analysis, characterize circulating miRNA profiles in individuals with aortopathy syndromes and compare to profiles in normal age-matched controls.
measure: Correlation of plasma miRNA profiles with aortic dimensions
time frame: 2 years
description: In a cross-sectional analysis correlate miRNA profiles with aortic dimension and Z-score, type of medication used, history of aneurysm and/or dissection, and need for surgical intervention in individuals with MFS.
measure: Correlation of plasma miRNA with progression of aortic aneurysm
time frame: 5 years
description: Correlate miRNA patterns with changes in aortic dimension and Z-score longitudinally at yearly time points.
arm group label: Marfan syndrome
description: Individuals with a clinical diagnosis of Marfan syndrome
arm group label: Aortopathy syndrome
description: Individuals with one of the following clinical diagnoses: Loeys-Dietz syndrome, Turner syndrome, Ehlers-Danlos type IV syndrome, Thoracic Aortic Aneurysm and Dissection syndromes.
Fractionated blood samples will be retained at a part of the study including plasma,
      platelets and mononuclear cells. At this time genetic testing (genotyping) of individual
      biospecimens is not included in the IRB-approved protocol.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 30 Days
maximum age: 60 Years
healthy volunteers: Accepts Healthy Volunteers
last name: Kathryn C Chatfield, MD, PhD
role: Principal Investigator
affiliation: University of Colorado Denver, Children's Hospital Colorado
facility: 
facility: 
country: United States
responsible party type: Sponsor
mesh term: Marfan Syndrome
mesh term: Arachnodactyly
mesh term: Loeys-Dietz Syndrome
mesh term: Turner Syndrome
mesh term: Aneurysm
mesh term: Aortic Aneurysm
mesh term: Aortic Aneurysm, Thoracic
mesh term: Syndrome