Aortic Stiffness in Patients with Genetic Aortopathies

Recruiting

• Conditions: Aortic Stiffness; Connective Tissue Defect; Rare Diseases
• Interventions: Device: Pulsotonometry

• Registration Number: NCT05715203
• Lead Sponsor: IRCCS Policlinico S. Donato

Brief Summary

The goal of this observational study is to study arterial stiffness in patients with thoracic ascending aortic aneurysms (TAA), either syndromic or non-syndromic. The main questions it aims to answer are:

* Stratification of aortic risk based on arterial stiffness; Compare measurements with morphological and haemodynamic features of the ascending thoracic aorta.

Participants will be asked to undergo non-invasive evaluation of blood pressure and arterial stiffness.

Detailed Description

Recent studies have highlighted the role played by the aorta and the great arteries in the regulation of the blood pressure (BP) and peripheral blood flow. Similarly, the structural and functional alteration of the aortic wall having a genetic cause is highly associated with the onset of aneurysms, especially of the ascending aorta, for which it is essential to monitor the aortic stiffness, which is detectable through a non-invasive and non-radioactive method such as Pulse Wave Velocity (PWV). Despite literature studies correlating PWV in MFS, few evaluations of aortic stiffness in patients with syndromic TAA have been done and its potential correlations with other aneurysm markers.

Study Timeline

• Study First Submitted: 2023-01-27
• Study First Submitted QC: 2023-01-27
• Study First Posted: 2023-02-06
• Study Start: 2023-02-15
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-22
• Last Update Posted: 2025-01-24
• Primary Completion: 2025-06-30
• Study Completion: 2025-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 250

Inclusion Criteria

• Subjects with AAT, either syndromic or non syndromic;
• Signed informed consent

Exclusion Criteria

• Patients with early menopause and/or osteoporosis, rheumatic heart disease and active malignant tumours;
• Patients with acute and chronic inflammatory conditions such as: chronic liver disease, chronic renal insufficiency and diseases affecting the thyroid system;
• Seropositivity to HIV, HCV, HBsAg and SARS-CoV-2;
• Pregnancy

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Non-syndromic TAA	Pulsotonometry	Subjets without clinical or genetic diagnosis of syndromic thoracic aortic aneurysms
Syndromic TAA	Pulsotonometry	Subjets with clinical or genetic diagnosis of syndromic thoracic aortic aneurysms

Primary Outcome Measures

Name	Time	Method
Pulse Wave Velocity	18 months	Statistic analysis will be performed using the Statistical Package for Social Science (SPSS for Windows; v20.0; SPSS, Chicago, Illinois, USA). Continuous variables will be expressed as mean ± Standard Deviation, while qualitative variables will be expressed as a percentage. Qualitative data will be compared using Fisher's test or Pearson's χ2 test, when appropriate. Continuous variables by t-test or analysis of variance normalized for covariates. Continuous variables will be correlated by simple or multiple linear regression

Trial Locations

Locations (1)

IRCCS Policlinico San Donato; 🇮🇹 San Donato Milanese, Lombardia, Italy