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 volunteersQualifiers
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
Cohort
Prospective
Treatments tested in this trial
Not listed
Trial groups
Trial outcomes
Primary outcomes
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.
Secondary outcomes
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.
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.
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.
Sponsors and contacts
Click on the lead sponsor to view all of their trials.