<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/NCT02250456</url>
  </required_header>
  <id_info>
    <org_study_id>5545</org_study_id>
    <nct_id>NCT02250456</nct_id>
  </id_info>
  <brief_title>AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome)</brief_title>
  <acronym>AVAST</acronym>
  <official_title>Detect, Monitor and Prevent Vascular Abnormalities Associated With Turner Syndrome</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Strasbourg, France</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Hospital, Strasbourg, France</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Turner syndrome is a genetic condition, rare, due to the total or partial absence of one X&#xD;
      chromosome, affecting 1/2500 newborn female. It combines almost constantly short stature and&#xD;
      ovarian failure with infertility.&#xD;
&#xD;
      Other anomalies are inconstant: morphological characteristics of varying intensity,&#xD;
      associated malformations, and increased risk of acquired diseases ...&#xD;
&#xD;
      The prognosis of patients reaching the Turner Syndrome is linked to cardiovascular&#xD;
      complications (congenital heart disease, dilatation of the ascending aorta with risk of&#xD;
      dissection or rupture of aneurysm), causing early mortality with reduction of life expectancy&#xD;
      of at least 10 years.&#xD;
&#xD;
      For these reasons, screening for heart disease and dilatation of the ascending aorta is&#xD;
      established and is intended to prevent the complications associated with medical treatment&#xD;
      and / or surgery to increase life expectancy and reduce the co-morbidities.&#xD;
&#xD;
      On the vascular level, the recommendations other than those relating to the monitoring of the&#xD;
      diameter of the ascending aorta include research of renal artery stenosis by doppler&#xD;
      ultrasound if the patient is hypertensive and looking for lymphedema.&#xD;
&#xD;
      However, other arterial lesions were described in the literature, outside of the aneurysm of&#xD;
      the ascending aorta. These peripheral arterial lesions can also be life and / or functional&#xD;
      prognosis of the patient. Ascending aorta dilation seems not to be exclusive in Turner&#xD;
      syndrome.&#xD;
&#xD;
      In addition, specific vascular lesions outside the affected artery are described: hepatic&#xD;
      cirrhosis by vascular depletion, lymphedema and varicose veins. The prevalence of venous or&#xD;
      lymphatic disease is unknown.&#xD;
&#xD;
      A single-center review of 9 cases of patients followed at the University Hospital of&#xD;
      Strasbourg showed the presence of vascular lesions discovered incidentally during assessments&#xD;
      performed for reasons other than cardiovascular screening: cystic lymphangioma, internal&#xD;
      carotid aneurysm, agenesis of the inferior vena cava, early varicose veins, embryonic&#xD;
      cerebral artery, etc ... None of these patients showed any dilatation of the ascending aorta&#xD;
      or heart disease. Peripheral vascular abnormalities in this patient group are exclusive.&#xD;
&#xD;
      In this study, we seek to demonstrate that arterial disease in Turner syndrome involve the&#xD;
      entire arterial territory and is not confined to the ascending aorta. Screening for arterial&#xD;
      lesions should be performed on the entire arterial vascular tree and regularly in the course&#xD;
      of time, especially as the presence of cardiovascular risk factors increases with the age of&#xD;
      these patients.&#xD;
&#xD;
      The venous and lymphatic vascular damage in the literature and in our series of cases in&#xD;
      University Hospital of Strasbourg description should also lead to the detection of these&#xD;
      lesions.&#xD;
&#xD;
      These vascular complications can be alone responsible for the reduction in life expectancy or&#xD;
      responsible for serious morbidity. Improved screening of associated vascular lesions is&#xD;
      necessary to enable the best prevention of cardiovascular complications.&#xD;
&#xD;
      It is also to establish the prevalence of vascular anomalies, whether arterial, venous or&#xD;
      lymphatic, to better understand the disease and its management. By collecting systematically&#xD;
      karyotype leading to diagnosis, it may be possible to make a link between the genetic defect&#xD;
      and heart or vascular disease.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Active, not recruiting</overall_status>
  <start_date type="Actual">July 2013</start_date>
  <completion_date type="Anticipated">July 2024</completion_date>
  <primary_completion_date type="Anticipated">July 2024</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>Collection of clinical events and systematized vascular ultrasound explorations</measure>
    <time_frame>Annual evaluation with a 5 years follow-up</time_frame>
    <description>Reports of annual clinical events and results of complementary cardiovascular investigations.&#xD;
Systematized arterial and venous ultrasound explorations once a year. Reports karyotype used to put the diagnosis of turner Syndrome to perform correlations karyotype - phenotype and karyotype - event.&#xD;
Annual standardized biological exploration.</description>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">125</enrollment>
  <condition>Turner Syndrome</condition>
  <condition>Peripheral Angiopathy</condition>
  <condition>Vascular Malformation</condition>
  <condition>Lymphedema</condition>
  <arm_group>
    <arm_group_label>Turner syndrome patients and vascular abnormalities</arm_group_label>
  </arm_group>
  <intervention>
    <intervention_type>Procedure</intervention_type>
    <intervention_name>Echo doppler</intervention_name>
    <description>vascular ultrasound explorations</description>
    <arm_group_label>Turner syndrome patients and vascular abnormalities</arm_group_label>
  </intervention>
  <biospec_retention>Samples Without DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Blood&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        All patient with Turner Syndrome.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Any woman over 18 years with Turner Syndrome confirmed by karyotype&#xD;
&#xD;
          -  Affiliated to a social security scheme&#xD;
&#xD;
          -  Having signed an informed consent&#xD;
&#xD;
          -  Having been informed of the results of the medical examination prior&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Inability to give informed patient information related to comprehension difficulties&#xD;
&#xD;
          -  Topic featuring against-indications for MRI examination:&#xD;
&#xD;
               -  pacemaker or automatic defibrillator, implanted pump&#xD;
&#xD;
               -  auditory nerve stimulator, anal nerve stimulator, etc ...&#xD;
&#xD;
               -  the ferromagnetic objects in the soft tissues, intraocular metallic objects,&#xD;
                  cerebral vascular clips&#xD;
&#xD;
               -  claustrophobia&#xD;
&#xD;
               -  morphotype not allowing access to MRI&#xD;
&#xD;
          -  Patient under judicial protection, guardianship or trusteeship&#xD;
&#xD;
          -  Patient in exclusion period (as determined by a previous study or in progress)&#xD;
&#xD;
          -  Pregnancy at the time of inclusion&#xD;
      </textblock>
    </criteria>
    <gender>Female</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Sébastien GAERTNER, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Hôpitaux Universitaires de Strasbourg</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Service de Chirurgie et Médecine Vasculaire, CHU Jean Minjoz</name>
      <address>
        <city>Besancon</city>
        <zip>25030</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Service d'Angiologie, CHU Bocage</name>
      <address>
        <city>Dijon</city>
        <zip>21079</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Service de gynécologie, Centre Médico Chirurgical Obstétrical, Hôpitaux Universitaires</name>
      <address>
        <city>Schiltigheim</city>
        <zip>67303</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Service d'endocrinologie, Hôpital Civil, Hôpitaux Universitaires</name>
      <address>
        <city>Strasbourg</city>
        <zip>67091</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Service d'explorations fonctionnelles non invasives cardio-vasculaires, Nouvel Hôpital Civil, Hôpitaux Universitaires</name>
      <address>
        <city>Strasbourg</city>
        <zip>67091</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Service HTA, maladies vasculaires et pharmacologie clinique, Nouvel Hôpital Civil, Hôpitaux Universitaires</name>
      <address>
        <city>Strasbourg</city>
        <zip>67091</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>June 2022</verification_date>
  <study_first_submitted>September 23, 2014</study_first_submitted>
  <study_first_submitted_qc>September 23, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 26, 2014</study_first_posted>
  <last_update_submitted>June 28, 2022</last_update_submitted>
  <last_update_submitted_qc>June 28, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">June 30, 2022</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>Turner Syndrome</mesh_term>
    <mesh_term>Gonadal Dysgenesis</mesh_term>
    <mesh_term>Vascular Malformations</mesh_term>
    <mesh_term>Peripheral Vascular Diseases</mesh_term>
    <mesh_term>Peripheral Arterial Disease</mesh_term>
    <mesh_term>Lymphedema</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/NCT02250456
org study id: 5545
nct id: NCT02250456
lead sponsor: 
has dmc: No
Turner syndrome is a genetic condition, rare, due to the total or partial absence of one X
      chromosome, affecting 1/2500 newborn female. It combines almost constantly short stature and
      ovarian failure with infertility.

      Other anomalies are inconstant: morphological characteristics of varying intensity,
      associated malformations, and increased risk of acquired diseases ...

      The prognosis of patients reaching the Turner Syndrome is linked to cardiovascular
      complications (congenital heart disease, dilatation of the ascending aorta with risk of
      dissection or rupture of aneurysm), causing early mortality with reduction of life expectancy
      of at least 10 years.

      For these reasons, screening for heart disease and dilatation of the ascending aorta is
      established and is intended to prevent the complications associated with medical treatment
      and / or surgery to increase life expectancy and reduce the co-morbidities.

      On the vascular level, the recommendations other than those relating to the monitoring of the
      diameter of the ascending aorta include research of renal artery stenosis by doppler
      ultrasound if the patient is hypertensive and looking for lymphedema.

      However, other arterial lesions were described in the literature, outside of the aneurysm of
      the ascending aorta. These peripheral arterial lesions can also be life and / or functional
      prognosis of the patient. Ascending aorta dilation seems not to be exclusive in Turner
      syndrome.

      In addition, specific vascular lesions outside the affected artery are described: hepatic
      cirrhosis by vascular depletion, lymphedema and varicose veins. The prevalence of venous or
      lymphatic disease is unknown.

      A single-center review of 9 cases of patients followed at the University Hospital of
      Strasbourg showed the presence of vascular lesions discovered incidentally during assessments
      performed for reasons other than cardiovascular screening: cystic lymphangioma, internal
      carotid aneurysm, agenesis of the inferior vena cava, early varicose veins, embryonic
      cerebral artery, etc ... None of these patients showed any dilatation of the ascending aorta
      or heart disease. Peripheral vascular abnormalities in this patient group are exclusive.

      In this study, we seek to demonstrate that arterial disease in Turner syndrome involve the
      entire arterial territory and is not confined to the ascending aorta. Screening for arterial
      lesions should be performed on the entire arterial vascular tree and regularly in the course
      of time, especially as the presence of cardiovascular risk factors increases with the age of
      these patients.

      The venous and lymphatic vascular damage in the literature and in our series of cases in
      University Hospital of Strasbourg description should also lead to the detection of these
      lesions.

      These vascular complications can be alone responsible for the reduction in life expectancy or
      responsible for serious morbidity. Improved screening of associated vascular lesions is
      necessary to enable the best prevention of cardiovascular complications.

      It is also to establish the prevalence of vascular anomalies, whether arterial, venous or
      lymphatic, to better understand the disease and its management. By collecting systematically
      karyotype leading to diagnosis, it may be possible to make a link between the genetic defect
      and heart or vascular disease.
observational model: Cohort
time perspective: Prospective
measure: Collection of clinical events and systematized vascular ultrasound explorations
time frame: Annual evaluation with a 5 years follow-up
description: Reports of annual clinical events and results of complementary cardiovascular investigations.
Systematized arterial and venous ultrasound explorations once a year. Reports karyotype used to put the diagnosis of turner Syndrome to perform correlations karyotype - phenotype and karyotype - event.
Annual standardized biological exploration.
arm group label: Turner syndrome patients and vascular abnormalities
intervention type: Procedure
intervention name: Echo doppler
description: vascular ultrasound explorations
arm group label: Turner syndrome patients and vascular abnormalities
Blood
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: Female
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Sébastien GAERTNER, MD
role: Principal Investigator
affiliation: Hôpitaux Universitaires de Strasbourg
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
country: France
responsible party type: Sponsor
mesh term: Turner Syndrome
mesh term: Gonadal Dysgenesis
mesh term: Vascular Malformations
mesh term: Peripheral Vascular Diseases
mesh term: Peripheral Arterial Disease
mesh term: Lymphedema
mesh term: Syndrome