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

NCT07391293 | Recruiting

• 1 other identifier: PROM-1
• Study Type: observational
• Target: 208
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Thoracic Aortic Aneurysm (TAA)

Keywords

risk stratification; quality of life; rare disease; survey

Outcome Measures

Primary Outcomes (4)

• 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.

  15 months

• 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.

  15 months

• 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.

  15 months

• 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.

  15 months

Study Arms (1)

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

Awareness and self-esteem, acceptance of the condition OTHER

questionnaire related to the quality of life and self-care

TAA

psychological and physical well-being OTHER

questionnaire to describe psychological and physical well-being.

TAA

Journey to diagnosis OTHER

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.

TAA

Quality of life, functional health and well-being OTHER

Qestionnaires

TAA

Eligibility Criteria

• Age: 14 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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

You may qualify if:

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

Sponsors & Collaborators

• IRCCS Policlinico S. Donato: lead

Study Sites (1)

Irccs Policlinico San Donato

Milan, 20097, Italy

RECRUITING

Related Publications (2)

• 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.

  BACKGROUND

• 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.

  BACKGROUND

MeSH Terms

Conditions

Aortic Aneurysm, Thoracic; Rare Diseases

Interventions

Quality of Life; Health

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Health Status; Demography; Epidemiologic Measurements; Public Health; Environment and Public Health; Population Characteristics

Central Study Contacts

Alessandro Pini, MD

CONTACT

+390252774705; alessandro.pini@grupposandonato.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 15 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: January 20, 2026
• First Posted: February 5, 2026
• Study Start: May 6, 2025
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): May 1, 2027
• Last Updated: February 5, 2026

Record last verified: 2025-12

Locations

IT (1)