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AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome) (AVAST)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02250456
Recruitment Status : Recruiting
First Posted : September 26, 2014
Last Update Posted : April 17, 2019
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

Brief Summary:

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.

Condition or disease Intervention/treatment
Turner Syndrome Peripheral Angiopathy Vascular Malformation Lymphedema Procedure: Echo doppler

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Study Type : Observational
Estimated Enrollment : 125 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Detect, Monitor and Prevent Vascular Abnormalities Associated With Turner Syndrome
Actual Study Start Date : July 2013
Estimated Primary Completion Date : July 2024
Estimated Study Completion Date : July 2024

Group/Cohort Intervention/treatment
Turner syndrome patients and vascular abnormalities Procedure: Echo doppler
vascular ultrasound explorations

Primary Outcome Measures :
  1. Collection of clinical events and systematized vascular ultrasound explorations [ Time Frame: Annual evaluation with a 5 years follow-up ]

    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.

Biospecimen Retention:   Samples Without DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All patient with Turner Syndrome.

Inclusion Criteria:

  • Any woman over 18 years with Turner Syndrome confirmed by karyotype
  • Affiliated to a social security scheme
  • Having signed an informed consent
  • Having been informed of the results of the medical examination prior

Exclusion Criteria:

  • Inability to give informed patient information related to comprehension difficulties
  • Topic featuring against-indications for MRI examination:

    • pacemaker or automatic defibrillator, implanted pump
    • auditory nerve stimulator, anal nerve stimulator, etc ...
    • the ferromagnetic objects in the soft tissues, intraocular metallic objects, cerebral vascular clips
    • claustrophobia
    • morphotype not allowing access to MRI
  • Patient under judicial protection, guardianship or trusteeship
  • Patient in exclusion period (as determined by a previous study or in progress)
  • Pregnancy at the time of inclusion

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02250456

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Contact: Sébastien GAERTNER, MD

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Service de Chirurgie et Médecine Vasculaire, CHU Jean Minjoz Recruiting
Besancon, France, 25030
Contact: Patricia COSTA, MD   
Principal Investigator: Patricia COSTA, MD         
Service d'Angiologie, CHU Bocage Recruiting
Dijon, France, 21079
Contact: Béatrice TERRIAT, MD   
Principal Investigator: Béatrice TERRIAT, MD         
Sub-Investigator: Vincent PETIT, MD         
Sub-Investigator: Nolwenn JEAN-MARCAIS, MD         
Sub-Investigator: Laurence OLIVIER-FAIVRE, MD         
Service de gynécologie, Centre Médico Chirurgical Obstétrical, Hôpitaux Universitaires Recruiting
Schiltigheim, France, 67303
Contact: Jeannine OHL, MD   
Service d'endocrinologie, Hôpital Civil, Hôpitaux Universitaires Recruiting
Strasbourg, France, 67091
Contact: Nathalie JEANDIDIER, MD   
Service d'explorations fonctionnelles non invasives cardio-vasculaires, Nouvel Hôpital Civil, Hôpitaux Universitaires Recruiting
Strasbourg, France, 67091
Contact: Hélène PETIT-EISENMANN, MD         
Service HTA, maladies vasculaires et pharmacologie clinique, Nouvel Hôpital Civil, Hôpitaux Universitaires Recruiting
Strasbourg, France, 67091
Contact: Sébastien GAERTNER, MD   
Principal Investigator: Sébastien GAERTNER, MD         
Sub-Investigator: Dominique STEPHAN, MD         
Sponsors and Collaborators
University Hospital, Strasbourg, France
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Principal Investigator: Sébastien GAERTNER, MD Hôpitaux Universitaires de Strasbourg

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Responsible Party: University Hospital, Strasbourg, France Identifier: NCT02250456    
Other Study ID Numbers: 5545
First Posted: September 26, 2014    Key Record Dates
Last Update Posted: April 17, 2019
Last Verified: April 2019
Additional relevant MeSH terms:
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Turner Syndrome
Gonadal Dysgenesis
Vascular Malformations
Peripheral Vascular Diseases
Peripheral Arterial Disease
Pathologic Processes
Congenital Abnormalities
Lymphatic Diseases
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases
Vascular Diseases
Arterial Occlusive Diseases