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RecruitingNCT07391293PROM-1Updated Feb 5, 2026

Genetic Aortic Diseases and Cardiovascular Complications. An Observational Survey of Risk Factors.

An observational study in Thoracic Aortic Aneurysm (TAA), sponsored by IRCCS Policlinico S. Donato. Recruiting at 1 site in Italy. Open to participants aged 14 Years to 60 Years. Per ClinicalTrials.gov, last updated 2026-02-05.

Sponsored by IRCCS Policlinico S. Donato · Observational

From the registry’s dates

  • Started May 2025; still recruiting 1 year 5 months later.
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
208
Ages
14 Years to 60 Years
Sex
All
01

Study summary

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.
Read the 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.

02

Conditions studied

  • Thoracic Aortic Aneurysm (TAA)

Keywords

  • risk stratification
  • quality of life
  • rare disease
  • survey
03

In context

Aortic Aneurysm, Thoracic

150 studies on the registry are indexed under Aortic Aneurysm, Thoracic; 41 are open to participants now.

This study's planned enrollment of 208 is above the median of 147 across 75 observational studies indexed under Aortic Aneurysm, Thoracic.

Browse Aortic Aneurysm, Thoracic studies →

Lead sponsor

IRCCS Policlinico S. Donato is the lead sponsor of 101 studies on the registry; 51 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
14 Years to 60 Years
Sexes eligible
All
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

Inclusion criteria

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

Exclusion criteria

Exclusion Criteria:

-

05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
208 participants (estimated)
Target follow-up
15 Months
Patient registry
Yes

Groups and cohorts

  • TAA

    subjects with TAA aged between 14 and 60 years

    Other: Journey to diagnosis · Other: Quality of life, functional health and well-being · Other: Awareness and self-esteem, acceptance of the condition · Other: psychological and physical well-being

Interventions

  • OtherJourney 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.

  • OtherQuality of life, functional health and well-being

    Qestionnaires

  • OtherAwareness and self-esteem, acceptance of the condition

    questionnaire related to the quality of life and self-care

  • Otherpsychological and physical well-being

    questionnaire to describe psychological and physical well-being.

06

What researchers measure

Primary outcomes

  1. Journey to diagnosis

    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.

    Time frame: 15 months

  2. Quality of life, functional health and well-being

    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.

    Time frame: 15 months

  3. Awareness and self-esteem, acceptance of the condition

    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.

    Time frame: 15 months

  4. psychological and physical well-being

    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.

    Time frame: 15 months

07

Study locations

1 of 1 sites recruiting
08

References and documents

Publications

  • Saeyeldin AA, Velasquez CA, Mahmood SUB, Brownstein AJ, Zafar MA, Ziganshin BA, Elefteriades JA. Thoracic aortic aneurysm: unlocking the "silent killer" secrets. Gen Thorac Cardiovasc Surg. 2019 Jan;67(1):1-11. doi: 10.1007/s11748-017-0874-x. Epub 2017 Dec 4. PubMed 29204794 ↗
  • Udugampolage N, Caruso R, Panetta M, Callus E, Dellafiore F, Magon A, Marelli S, Pini A. Is SF-12 a valid and reliable measurement of health-related quality of life among adults with Marfan syndrome? A confirmatory study. PLoS One. 2021 Jun 9;16(6):e0252864. doi: 10.1371/journal.pone.0252864. eCollection 2021. PubMed 34106976 ↗

Individual participant data

Plan to share: Undecided — PD will not or might not be shared according to the preliminary results

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Feb 5, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT07391293
Lead sponsor
IRCCS Policlinico S. Donato
Responsible party
Alessandro Pini (MD, IRCCS Policlinico S. Donato) — Principal investigator
First posted
Feb 5, 2026
Start date
May 6, 2025
Primary completion
Dec 2026 (estimated)
Completion
May 2027 (estimated)
Last update
Feb 5, 2026

Study contacts

Alessandro Pini, MD
Contact
alessandro.pini@grupposandonato.it
+390252774705

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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