Genetic Architecture of Acute Aortic Syndromes and Aortic Aneurysm.

NCT06353607 | Recruiting

• 1 other identifier: 2023-02267; kt23Berdajs
• Study Type: observational
• Target: 730
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Acute Aortic Dissection; Thoracic Aortic Aneurysm

Outcome Measures

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.

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

Secondary Outcomes (3)

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

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

• 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.

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

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

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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University Hospital, Basel, Switzerland: lead

Study Sites (1)

University Hospital Basel

Basel, 4031, Switzerland

RECRUITING

MeSH Terms

Conditions

Aortic Aneurysm, Thoracic

Condition Hierarchy (Ancestors)

Aortic Aneurysm; Aneurysm; Vascular Diseases; Cardiovascular Diseases; Aortic Diseases

Study Officials

• Denis Berdajs, Prof. Dr.

  University Hospital, Basel, Switzerland

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Denis Berdajs, Prof. Dr.

CONTACT

0041 61 328 71 80; denis.berdajs@usb.ch

Islam Salikhanov, Dr.

CONTACT

0041 61 26 53225; Islam.Salikhanov@usb.ch

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 2, 2024
• First Posted: April 9, 2024
• Study Start: April 8, 2024
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): December 31, 2028
• Last Updated: May 16, 2025

Record last verified: 2025-05

Locations

CH (1)