Actively Recruiting

Age: 18Years +
All Genders
ID06353607

Genetic Architecture of Acute Aortic Syndromes and Aortic Aneurysm

Led by University Hospital, Basel, Switzerland · Updated on 2025-05-16

730

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

This research aims to explore the genetic factors associated with the development of thoracic aortic aneurysm (TAA) and acute aortic dissection (aAD) in individuals without a history or syndromic features such as Marfan syndrome, Ehlers-Danlos syndrome, or Turner syndrome. The study will use whole genome sequencing to analyze patients who have documented aortic aneurysm or aortic dissection. Understanding these genetic links is important because aAD is a life-threatening condition with high mortality, and better risk prediction tools are needed to identify high-risk patients for early intervention. The study involves an observational cohort of patients who underwent or will undergo surgery for aAD or TAA at the University Hospital Basel starting from 2015 and continuing into 2024. Researchers will collect molecular genetic data and combine it with standard clinical and imaging data including computed tomography angiography (CTA), transesophageal echocardiogram (TEE), and transthoracic echocardiogram (TTE). This combined data will be used to refine risk stratification and improve individualized management of patients with TAA and aAD. Participants will be involved in genetic testing and clinical follow-up for up to four years. Researchers will assess the association between gene variants and the prevalence of TAA and/or aAD, investigate genetic profiles from surgical tissue samples, and analyze the relationship between imaging findings, tissue pathology, and gene variants. The goal is to establish a risk prediction model for aAD and TAA based on genetic, clinical, and imaging information, helping to tailor patient care and therapy.

CONDITIONS

Brief Title

Genetic Architecture of Acute Aortic Syndromes and Aortic Aneurysm.

Who Can Participate

Age: 18Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Adults older than 18 years who underwent surgery for acute aortic dissection or thoracic aortic aneurysm at University Hospital Basel starting in 2015
  • Patients who will undergo surgery for acute aortic dissection or thoracic aortic aneurysm at University Hospital Basel beginning in 2024
Not Eligible

You will not qualify if you...

  • Patients unable or unwilling to provide informed consent
  • Patients diagnosed with heritable vascular disorders such as Marfan syndrome, Turner syndrome, Loeys-Dietz syndrome, or Ehlers-Danlos syndrome

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Diagnostic Evaluation

Duration - Baseline and up to 4 years of follow-up

Participants undergo genetic and imaging assessments to evaluate thoracic aortic aneurysm and acute aortic dissection risk factors.

Initial and periodic visits for imaging and genetic assessments over up to 4 years

Trial Site Locations

Total: 1 location

1

University Hospital Basel

Basel, Switzerland, 4031

Actively Recruiting

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Research Team

D

Denis Berdajs, Prof. Dr.

I

Islam Salikhanov, Dr.

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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