Aortic Stiffness in Patients With Genetic Aortopathies

NCT05715203 | Recruiting

• 1 other identifier: Pulse Wave
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

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.

Conditions

Rare Diseases; Aortic Stiffness; Connective Tissue Defect

Keywords

arterial stiffness; Ascending aortic aneurysm; pulse wave velocity

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

Syndromic TAA

Subjets with clinical or genetic diagnosis of syndromic thoracic aortic aneurysms

Device: Pulsotonometry

Non-syndromic TAA

Subjets without clinical or genetic diagnosis of syndromic thoracic aortic aneurysms

Device: Pulsotonometry

Interventions

Pulsotonometry DEVICE

Evaluation of arterial stiffness

Non-syndromic TAA; Syndromic TAA

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• IRCCS Policlinico S. Donato: lead
• Istituto Auxologico Italiano: collaborator

Study Sites (1)

IRCCS Policlinico San Donato

San Donato Milanese, Lombardy, 20097, Italy

RECRUITING

MeSH Terms

Conditions

Rare Diseases; Aneurysm, Ascending Aorta

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Aortic Aneurysm, Thoracic; Aortic Aneurysm; Aneurysm; Vascular Diseases; Cardiovascular Diseases; Aortic Diseases

Study Officials

• Alessandro Pini

  Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Alessandro Pini, MD

CONTACT

+390252774705; alessandro.pini@grupposandonato.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 27, 2023
• First Posted: February 6, 2023
• Study Start: February 15, 2023
• Primary Completion: November 30, 2025
• Study Completion: December 31, 2025
• Last Updated: September 10, 2025

Record last verified: 2025-07

Locations

IT (1)