Aortic Stiffness in Patients With Genetic Aortopathies

NCT ID: NCT05715203

Last Updated: 2025-09-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

250 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-02-15

Study Completion Date

2025-12-31

Brief Summary

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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

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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.

Conditions

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Rare Diseases Aortic Stiffness Connective Tissue Defect

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Syndromic TAA

Subjets with clinical or genetic diagnosis of syndromic thoracic aortic aneurysms

Pulsotonometry

Intervention Type DEVICE

Evaluation of arterial stiffness

Non-syndromic TAA

Subjets without clinical or genetic diagnosis of syndromic thoracic aortic aneurysms

Pulsotonometry

Intervention Type DEVICE

Evaluation of arterial stiffness

Interventions

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Pulsotonometry

Evaluation of arterial stiffness

Intervention Type DEVICE

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Istituto Auxologico Italiano

OTHER

Sponsor Role collaborator

IRCCS Policlinico S. Donato

OTHER

Sponsor Role lead

Responsible Party

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Alessandro Pini

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Alessandro Pini

Role: PRINCIPAL_INVESTIGATOR

Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato

Locations

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IRCCS Policlinico San Donato

San Donato Milanese, Lombardy, Italy

Site Status RECRUITING

Countries

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Italy

Central Contacts

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Alessandro Pini, MD

Role: CONTACT

+390252774705

Facility Contacts

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Alessandro Pini, MD

Role: primary

+390252774705

Other Identifiers

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Pulse Wave

Identifier Type: -

Identifier Source: org_study_id

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