Aortic Stiffness in Patients With Genetic Aortopathies
Rare Diseases · Aortic Stiffness · Connective Tissue Defect
What this study involves
The registry says this study is recruiting. Individual locations may have different availability.
- Study type
- Observational
- Phase
- Not applicable / not listed
- Age range
- Not specified - Not specified
- Sex eligible
- All sexes
- Healthy volunteers
- Not reported
- Participants
- 250 Estimated
These are starting points, not an eligibility decision. The research team must review the full requirements.
About the research
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.
Read the full 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.
Who may be able to participate?
The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.
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 population
Patients with ascending aortic aneurysms currently in follow.up at Cardiovascular Gentic Centre, IRCCS Policlinico San Donato.
Understand screeningTreatment, groups and participation
The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.
- Assignment
- Not reported
- Masking
- Not reported
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
Pulsotonometry DEVICE
Evaluation of arterial stiffness
What researchers are measuring
Outcome measures describe what is being studied. They are not proof that a treatment works.
Primary measures
Pulse Wave Velocity
Time frame: 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
Review the complete result tables and limitations in the official record.
Open official results ↗Research locations (1)
The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.
1 locations
IRCCS Policlinico San DonatoSan Donato Milanese, Lombardy, ItalyRecruiting
Study team and timeline
- Lead sponsor
- IRCCS Policlinico S. Donato
- Study start
- Feb 15, 2023 Actual
- Primary completion
- Feb 28, 2027 Estimated
- Study completion
- Dec 31, 2027 Estimated
- First posted
- Feb 6, 2023 Actual
- Last updated
- Nov 10, 2026 Actual
Official study contacts
Official study title
Aortic Stiffness in Patients With Genetic Aortopathies: Intervention Analysis
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Source: ClinicalTrials.gov API v2. Information is submitted by sponsors and investigators. NLM does not approve the safety or science of all listed studies. Registry disclaimer.
Retrieved: Nov 11, 2026 · Last registry update: Nov 10, 2026