Aortic Stiffness in Patients With Genetic Aortopathies (PULSEWAVE)

Aortic Stiffness in Patients With Genetic Aortopathies: Intervention Analysis

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.

Study Overview

• Status: Recruiting
• Conditions: Rare Diseases; Aortic Stiffness; Connective Tissue Defect
• Intervention / Treatment: Device: Pulsotonometry

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 Type: Observational
• Enrollment (Estimated): 250

Contacts and Locations

• Study Contact: Name: Alessandro Pini, MD; Phone Number: +390252774705; Email: alessandro.pini@grupposandonato.it

Study Locations

• Italy
  • Lombardy
    • San Donato Milanese, Lombardy, Italy, 20097
      • Recruiting
      • IRCCS Policlinico San Donato
      • Contact: Alessandro Pini, MD; Phone Number: +390252774705; Email: alessandro.pini@grupposandonato.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with ascending aortic aneurysms currently in follow.up at Cardiovascular Gentic Centre, IRCCS Policlinico San Donato.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Syndromic TAA; Subjets with clinical or genetic diagnosis of syndromic thoracic aortic aneurysms	Device: Pulsotonometry; Evaluation of arterial stiffness
Non-syndromic TAA; Subjets without clinical or genetic diagnosis of syndromic thoracic aortic aneurysms	Device: Pulsotonometry; Evaluation of arterial stiffness

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Pulse Wave Velocity	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	18 months

Collaborators and Investigators

• Sponsor: IRCCS Policlinico S. Donato
• Collaborators: Istituto Auxologico Italiano
• Investigators: Principal Investigator: Alessandro Pini, Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato

Study record dates

Study Major Dates

• Study Start (Actual): February 15, 2023
• Primary Completion (Estimated): November 30, 2025
• Study Completion (Estimated): December 31, 2025

Study Registration Dates

• First Submitted: January 27, 2023
• First Submitted That Met QC Criteria: January 27, 2023
• First Posted (Actual): February 6, 2023

Study Record Updates

• Last Update Posted (Estimated): September 10, 2025
• Last Update Submitted That Met QC Criteria: September 8, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Keywords: pulse wave velocity; arterial stiffness; Ascending aortic aneurysm
• Additional Relevant MeSH Terms: Vascular Diseases; Cardiovascular Diseases; Pathologic Processes; Disease Attributes; Aortic Diseases; Aneurysm; Aortic Aneurysm; Aortic Aneurysm, Thoracic; Pathological Conditions, Signs and Symptoms; Aneurysm, Ascending Aorta; Rare Diseases
• Other Study ID Numbers: Pulse Wave

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No