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

June 28, 2022 updated by: University Hospital, Strasbourg, France

Detect, Monitor and Prevent Vascular Abnormalities Associated With Turner Syndrome

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.

Study Overview

Status

Active, not recruiting

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

125

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

      • Besancon, France, 25030
        • Service de Chirurgie et Médecine Vasculaire, CHU Jean Minjoz
      • Dijon, France, 21079
        • Service d'Angiologie, CHU Bocage
      • Schiltigheim, France, 67303
        • Service de gynécologie, Centre Médico Chirurgical Obstétrical, Hôpitaux Universitaires
      • Strasbourg, France, 67091
        • Service d'endocrinologie, Hôpital Civil, Hôpitaux Universitaires
      • Strasbourg, France, 67091
        • Service d'explorations fonctionnelles non invasives cardio-vasculaires, Nouvel Hôpital Civil, Hôpitaux Universitaires
      • Strasbourg, France, 67091
        • Service HTA, maladies vasculaires et pharmacologie clinique, Nouvel Hôpital Civil, Hôpitaux Universitaires

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Female

Sampling Method

Non-Probability Sample

Study Population

All patient with Turner Syndrome.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Turner syndrome patients and vascular abnormalities
vascular ultrasound explorations

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.

Annual evaluation with a 5 years follow-up

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Sébastien GAERTNER, MD, Hôpitaux Universitaires de Strasbourg

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 1, 2013

Primary Completion (Anticipated)

July 1, 2024

Study Completion (Anticipated)

July 1, 2024

Study Registration Dates

First Submitted

September 23, 2014

First Submitted That Met QC Criteria

September 23, 2014

First Posted (Estimate)

September 26, 2014

Study Record Updates

Last Update Posted (Actual)

June 30, 2022

Last Update Submitted That Met QC Criteria

June 28, 2022

Last Verified

June 1, 2022

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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