<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/NCT02256163</url>
  </required_header>
  <id_info>
    <org_study_id>NI10023</org_study_id>
    <secondary_id>N° ID RCB: 2010-A01448-31</secondary_id>
    <secondary_id>AOM10108</secondary_id>
    <nct_id>NCT02256163</nct_id>
  </id_info>
  <brief_title>Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm</brief_title>
  <acronym>TAA</acronym>
  <official_title>Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Assistance Publique - Hôpitaux de Paris</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Assistance Publique - Hôpitaux de Paris</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The primary objectives of the study are&#xD;
&#xD;
        -  to assess the contribution of alteration of each known gene on non-syndromic TAA.&#xD;
&#xD;
        -  to map and identify unknown gene involved in the non-syndromic TAA.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The secondary objectives of the study are&#xD;
&#xD;
        -  to study the correlation of phenotype-genotype, in particular, to compare the aortic&#xD;
           phenotype of non-syndromic TAA patients and TAA syndromic patients.&#xD;
&#xD;
        -  to develop national standardized strategies of genetic diagnosis and of clinical&#xD;
           management using genetic data.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">June 2011</start_date>
  <completion_date type="Actual">March 2017</completion_date>
  <primary_completion_date type="Actual">December 2016</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Family-Based</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Impact of known mutations and research of new genes involved in non syndromic TAA</measure>
    <time_frame>1 year</time_frame>
    <description>Research for mutations in known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11.&#xD;
Research for new genes in families and in individuals TAA patients without known mutation.</description>
  </primary_outcome>
  <enrollment type="Actual">258</enrollment>
  <condition>Thoracic Aortic Aneurysm</condition>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Blood sample.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Enrollement of individuals and families followed in the reference centers and the&#xD;
        competence centers,&#xD;
&#xD;
          -  search for mutations in one of known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or&#xD;
             MYH11.&#xD;
&#xD;
          -  search for new genes in families and individuals with TAA who without mutation in one&#xD;
             of the known genes.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        For all:&#xD;
&#xD;
          -  Aged &gt; 18 years.&#xD;
&#xD;
          -  Written informed consent obtained.&#xD;
&#xD;
          -  People with health insurance.&#xD;
&#xD;
        For individual:&#xD;
&#xD;
          -  people ≥ 45 years, thoracic aortic aneurysm without syndrome,&#xD;
&#xD;
          -  or people &gt; 45 years with familial TAA.&#xD;
&#xD;
        For family:&#xD;
&#xD;
          -  At least 2 members of family in 2 generations have TAA without syndrome and at least 2&#xD;
             patients of TAA will undergo blood collection.&#xD;
&#xD;
          -  All people in family will undergo blood collection, each member should declare at&#xD;
             first his (her) status (with or without TAA, unknown), the relationship (direct&#xD;
             relative family or family in-law), no limit of age. For the children, only those with&#xD;
             TAA will perform blood collection for the study.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Thoracic aortic aneurysm with different syndromes (Marfan syndrome, Ehlers-Danlos&#xD;
             syndrome, Loeys-Dietz syndrome, Turner syndrome, Noonan syndrome).&#xD;
&#xD;
          -  Arterial hypertension.&#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>Catherine Boileau, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Département de Génétique, Hôpital Bichat, France</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Département de Génétique, Hôpital Bichat</name>
      <address>
        <city>Paris</city>
        <state>Ile De France</state>
        <zip>75018</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>November 2017</verification_date>
  <study_first_submitted>October 1, 2014</study_first_submitted>
  <study_first_submitted_qc>October 1, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">October 3, 2014</study_first_posted>
  <last_update_submitted>November 17, 2017</last_update_submitted>
  <last_update_submitted_qc>November 17, 2017</last_update_submitted_qc>
  <last_update_posted type="Actual">November 20, 2017</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Thoracic Aortic Aneurysm (TAA)</keyword>
  <keyword>gene</keyword>
  <keyword>familial TAA</keyword>
  <keyword>blood collection</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Aneurysm</mesh_term>
    <mesh_term>Aortic Aneurysm</mesh_term>
    <mesh_term>Aortic Aneurysm, Thoracic</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/NCT02256163
org study id: NI10023
secondary id: N° ID RCB: 2010-A01448-31
secondary id: AOM10108
nct id: NCT02256163
lead sponsor: 
has dmc: No
The primary objectives of the study are

        -  to assess the contribution of alteration of each known gene on non-syndromic TAA.

        -  to map and identify unknown gene involved in the non-syndromic TAA.
The secondary objectives of the study are

        -  to study the correlation of phenotype-genotype, in particular, to compare the aortic
           phenotype of non-syndromic TAA patients and TAA syndromic patients.

        -  to develop national standardized strategies of genetic diagnosis and of clinical
           management using genetic data.
observational model: Family-Based
time perspective: Prospective
measure: Impact of known mutations and research of new genes involved in non syndromic TAA
time frame: 1 year
description: Research for mutations in known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11.
Research for new genes in families and in individuals TAA patients without known mutation.
Blood sample.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Catherine Boileau, MD
role: Principal Investigator
affiliation: Département de Génétique, Hôpital Bichat, France
facility: 
country: France
responsible party type: Sponsor
mesh term: Aneurysm
mesh term: Aortic Aneurysm
mesh term: Aortic Aneurysm, Thoracic