Genetic Aortic Diseases and Cardiovascular Complications. An Observational Survey of Risk Factors. (PROM-1)

January 29, 2026 updated by: Alessandro Pini, IRCCS Policlinico S. Donato

The aim of this observational study is to define the behavioural and cardiovascular risk factor profiles of patients with genetic aortopathies. The main questions it aims to answer are:

  • How do the interconnections between lifestyle, stress, psychological condition, perception of illness, and state of health influence each other in this population?
  • Beyond traditional risk factors, additional emerging factors should be considered, including pregnancy-related complications, sedentary lifestyle, early menopause and depression. The interplay between eating disorders, lifestyle factors and autoimmune or inflammatory bowel diseases remains poorly understood.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Thoracic aortic aneurysms (TAA) present peculiar symptoms as well as high mortality due to complications related to dilatation and dissection of the ascending aorta and great arteries. The presence or absence of extra-aortic features determines whether TAADs are syndromic, associated with diseases affecting other systems and organs, or non-syndromic, with manifestations limited to the aorta. Life expectancy of patients withTAA has improved markedly in the last decades, but still remains lower than that of the general population.

Study Type

Observational

Enrollment (Estimated)

208

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients with TAA either syndromic or non-syndromic followed at the Cardiovascular Genetic Centre, IRCCS Policlinico San Donato

Description

Inclusion Criteria:

  • signed onformed consent
  • Ability to speak, read and write in Italian

Exclusion Criteria:

-

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
TAA
subjects with TAA aged between 14 and 60 years
Other: Journey to diagnosis
Questions relating to the course and experience/history of the disease from the onset of symptoms to confirmation of diagnosis; accessibility to referral facilities for treatment and follow-up.
Other: Quality of life, functional health and well-being
Qestionnaires
Other: Awareness and self-esteem, acceptance of the condition
questionnaire related to the quality of life and self-care
Other: psychological and physical well-being
questionnaire to describe psychological and physical well-being.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Journey to diagnosis
Time Frame: 15 months
The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions.
15 months
Quality of life, functional health and well-being
Time Frame: 15 months
The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions.
15 months
Awareness and self-esteem, acceptance of the condition
Time Frame: 15 months
The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions.
15 months
psychological and physical well-being
Time Frame: 15 months
The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions.
15 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS Policlinico S. Donato

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

  • Saeyeldin, Ayman A., Camilo A. Velasquez, Syed Usman B. Mahmood, Adam J. Brownstein, Mohammad A. Zafar, Bulat A. Ziganshin, e John A. Elefteriades. 2019. "Thoracic aortic aneurysm: unlocking the "silent killer" secrets". General Thoracic and Cardiovascular Surgery 67(1):1-11.
  • Udugampolage, Nathasha, Rosario Caruso, Mariangela Panetta, Edward Callus, Federica Dellafiore, Arianna Magon, Susan Marelli, e Alessandro Pini. 2021. "Is SF-12 a valid and reliable measurement of health-related quality of life among adults with Marfan syndrome? A confirmatory study". PLoS ONE 16(6 June):e0252864. doi: 10.1371/journal.pone.0252864.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 6, 2025

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

May 1, 2027

Study Registration Dates

First Submitted

January 20, 2026

First Submitted That Met QC Criteria

January 29, 2026

First Posted (Actual)

February 5, 2026

Study Record Updates

Last Update Posted (Actual)

February 5, 2026

Last Update Submitted That Met QC Criteria

January 29, 2026

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PROM-1

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

PD will not or might not be shared according to the preliminary results

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Thoracic Aortic Aneurysm (TAA)

Clinical Trials on Journey to diagnosis

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Georgia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe