Turner SyndromeAVASTNCT02250456
AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome)
An observational study of Turner Syndrome and Peripheral Angiopathy, run by University Hospital, Strasbourg, France at 6 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Turner Syndrome, Peripheral Angiopathy, Vascular Malformation
- What is being tested?
- Echo doppler
- Type of treatment
- Surgery or procedure
- How many people
- 72 participants
- Where
- 6 sitesFrance
- Study dates
- 30 Jul 2013to 1 Dec 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: All patient with Turner Syndrome.
Who may be able to join
- 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
Who cannot join
- 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
Show all 10Show fewer
- 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
Trial locations and contacts
6 sites in 1 country.
6 sites in 1 country
France6 sites
Service de Chirurgie et Médecine Vasculaire, CHU Jean Minjoz
Besançon, 25030
Service d'Angiologie, CHU Bocage
Dijon, 21079
Service de gynécologie, Centre Médico Chirurgical Obstétrical, Hôpitaux Universitaires
Schiltigheim, 67303
Service d'endocrinologie, Hôpital Civil, Hôpitaux Universitaires
Strasbourg, 67091
Service d'explorations fonctionnelles non invasives cardio-vasculaires, Nouvel Hôpital Civil, Hôpitaux Universitaires
Strasbourg, 67091
Service HTA, maladies vasculaires et pharmacologie clinique, Nouvel Hôpital Civil, Hôpitaux Universitaires
Strasbourg, 67091
About this study
Official title: 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 ...
Read more
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.
- Being tested
- Echo doppler
- Medical subject headings
- Turner Syndrome, Peripheral Vascular Diseases, Vascular Malformations, Lymphedema
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Echo dopplerProcedure or surgery
vascular ultrasound explorations
| Study group | Role | What they receive |
|---|---|---|
| Turner syndrome patients and vascular abnormalities | Not described Receives: Procedure: Echo doppler |
What is being measured
The primary outcome is the main question the study is designed to answer.
Collection of clinical events and systematized vascular ultrasound explorations
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.
Measured: Annual evaluation with a 5 years follow-up
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Sep 2014 (estimated)
- Study start30 Jul 2013
- Primary completion1 Dec 2022
- Study completion1 Dec 2022
Why it stopped: Terminated early due to insufficient recruitment
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Turner SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 72 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Sébastien GAERTNER, MD, Principal investigator, Hôpitaux Universitaires de Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02250456
- Sponsor's protocol ID
- 5545
- Acronym
- AVAST
- Status last verified
- Aug 2026
- First submitted
- 23 Sep 2014
- Last updated
- 21 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Detect, Monitor and Prevent Vascular Abnormalities Associated With Turner Syndrome
- ClinicalTrials.gov ID
- NCT02250456
- Acronym / sponsor ID
- AVAST / 5545
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Terminated early due to insufficient recruitment
- Enrolment
- 72 participants (actual)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 30 Jul 2013 (actual)
- Primary completion
- 1 Dec 2022 (actual)
- Study completion
- 1 Dec 2022 (actual)
- First posted
- 26 Sep 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Turner syndrome patients and vascular abnormalities | – | Procedure: Echo doppler |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- All patient with Turner Syndrome.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (10 listed)
- Inability to give informed patient information related to comprehension difficulties
- Topic featuring against-indications for MRI examination:
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Echo dopplervascular ultrasound explorations | Procedure or surgery | Turner syndrome patients and vascular abnormalities |
Primary outcome
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.
Results and safety
The study was stopped early (reason given: Terminated early due to insufficient recruitment). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Aug 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Sébastien GAERTNER, MD principal investigator
Hôpitaux Universitaires de Strasbourg
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Turner Syndrome and Peripheral Angiopathy, run by University Hospital, Strasbourg, France at 6 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 21 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Terminated early due to insufficient recruitment). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collection of clinical events and systematized vascular ultrasound explorations (time frame: Annual evaluation with a 5 years follow-up). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Aug 2026.