Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases (FIBRA)

San Donato Group (GSD)

Status

Invitation-only

Conditions

Marfan Syndrome

Thoracic Aortic Aneurysm (TAA)

Rare Diseases

Study type

Observational

Funder types

Other

Identifiers

NCT06786754

FIBRA

Details and patient eligibility

About

The aim of the present study is to characterise the phenotype of fibroblasts and to classify different mechanisms involved in the onset and progression of TAAD in syndromic and non-syndromic subjects in order to evaluate potential markers related to TAAD.

Full description

The aim of the study is to analyse cutaneous fibroblast properties in patients with thoracic aortic aneurysms (both syndromic and non-syndromic) to identify differences in molecular mechanisms in collagen turnover pathways compared to healthy controls in the general population.

Enrollment

15 estimated patients

Sex

All

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria (general for the study):

signed informed consent; subjects aged 18 years and above.

Inclusion Criteria (Case):

subjects with Marfan syndrome and thoracic aortic aneurysms (in clinical follow-up or with cardiac surgery program); subjects with non-syndromic thoracic aortic aneurysms (in clinical follow-up or with cardiac surgery program);

Inclusion Criteria (healthy controls):

absence of any aortic/thoracic disease;

Exclusion Criteria (all groups):

Presence of any confounding cardiovascular risk factor (hypertension, dyslipidaemia, diabetes, smoking habits) or previous cardiovascular disease
Corticosteroid or Steroids or Fluorochinolones treatment within six months before enrollment Subjects on chronic immunosuppressive therapies such as oral steroids, but also on chronic topical steroids in the area of investigation;
A history of keloid formation (data found in anamnesis and medical records);
Anaesthetic drug allergy (data found in anamnesis and medical records).