Genetic Architecture of Acute Aortic Syndromes and Aortic Aneurysm.

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorUniversity Hospital, Basel, Switzerland

About this trial

The aim of this study is to explore the genetic information associated with the development of TAA and aAD in individuals without history or syndromic features (Marfan syndrome, Ehlers-Danlos syndrome, Turner syndrome etc.) for aortic disease. For this purpose, whole genome sequencing will be performed in patients with documented aortic aneurysm or/and aortic dissection.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

All adult patients > 18 years who underwent surgery for aAD or TAA intervention at the University Hospital Basel, starting in 2015.

All patients who will undergo surgery for aAD or TAA at the University Hospital Basel, beginning in 2024.

Disqualifiers

Patients will be excluded if they are not able or not willing to provide informed consent.

Patients with diagnosed heritable vascular disorders, such as Marfan syndrome, Turner Syndrome, Loeyes Dietz and Ehlers-Danlos syndrome.

Trial population

Patients with surgical aAD or TAA intervention performed at the Unversity Hospital Basel between 2015 and 2028.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

Primary outcomes

1

Assessment of the association between the prevalence of TAA and/or aAD in variants with genes associated with thoracic aortic disease.

Assessment of the association between the prevalence of TAA and/or aAD in variants with genes associated with thoracic aortic disease.

Time frame
Baseline to last follow-up visit (up to 4 years)

Secondary outcomes

1

Investigate the genetic landscape of aortic specimens retrieved from surgical intervention tissues, and relate the genetic profile to cell molecular pathology.

Investigate the genetic landscape of aortic specimens retrieved from surgical intervention tissues, and relate the genetic profile to cell molecular pathology.

Time frame
Baseline to last follow-up visit (up to 4 years)
2

To assess the association between the aortic segment dimension (in CT scan and TEE images), tissue pathology and gene variants to determine the images predictive factors for TAA and/or aAD.

To assess the association between the aortic segment dimension (in CT scan and TEE images), tissue pathology and gene variants to determine the images predictive factors for TAA and/or aAD.

Time frame
Baseline to last follow-up visit (up to 4 years)
3

To establish a risk prediction model for aAD and TAA based on genetic, clinical, and imaging endpoints.

To establish a risk prediction model for aAD and TAA based on genetic, clinical, and imaging endpoints.

Time frame
Baseline to last follow-up visit (up to 4 years)

Other outcomes

Sponsors and contacts

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