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

FIBROBLASTS AND THORACIC AORTIC ANEURYSMS: IN VITRO CHARACTERIZATION IN PATIENTS WITH MARFAN SYNDROME AND GENETIC AORTIC DISEASES

Status

Enrolling by invitation

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06786754

Acronym

FIBRA

Enrollment

Registered

2025-01-22

Start date

2025-06-17

Completion date

2027-01-01

Last updated

2026-05-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Marfan Syndrome, Rare Diseases, Thoracic Aortic Aneurysm (TAA)

Keywords

Fibroblasts, Collagen turnover, thoracic aortic aneuryms

Brief summary

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.

Detailed 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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Yes

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).

Design outcomes

Primary

Measure	Time frame	Description
Fibroblasts phenotype: cell morphology and migration	12 months	cell morphology: phase-contrast microscopy

Secondary

Measure	Time frame	Description
Expression of genes and proteins involved in collagen turnover and extracellular matrix remodeling pathways	16 months	mRNA extraction and real-time PCR to assess the expression of genes involved in collagen turnover;
Levels of metalloproteinases involved in ECM degradation	24 months	SDS-zymography

Countries

Italy

Outcome results