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Enrolling by Invitation

NCT Number: NCT06786754

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

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.

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Key information

Conditions

Rare Diseases Abnormalities, Multiple Aneurysm Aortic Aneurysm Aortic Aneurysm, Thoracic Aortic Diseases Bone Diseases Bone Diseases, Developmental Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Disease Attributes Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Marfan Syndrome Musculoskeletal Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Skin and Connective Tissue Diseases Thoracic Aortic Aneurysm (TAA) Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Cardiovascular Genetic Centre IRCCS Policlinico San Donato

San Donato Milanese, Milan, 20097, Italy

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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).

Treatment and study plan

Primary outcomes

  1. Fibroblasts phenotype: cell morphology and migration

    Time frame: 12 months

    cell morphology: phase-contrast microscopy

  2. Fibroblasts phenotype: cell morphology and migration

    Time frame: 12 months

    Cell migration: wound healing assay (scratch test).

Secondary outcomes

  1. Expression of genes and proteins involved in collagen turnover and extracellular matrix remodeling pathways

    Time frame: 16 months

    mRNA extraction and real-time PCR to assess the expression of genes involved in collagen turnover;

  2. Expression of genes and proteins involved in collagen turnover and extracellular matrix remodeling pathways

    Time frame: 16 months

    Slot blot to assess ECM proteins and degrading proteases.

  3. Levels of metalloproteinases involved in ECM degradation

    Time frame: 24 months

    SDS-zymography

Sponsors and collaborators

Lead sponsor

IRCCS Policlinico S. Donato

Other

Collaborators

  • University of Milan

Registry information

Official study title

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

Acronym: FIBRA

Important dates

Study start
2025
Primary completion
2026
Study completion
2027
First posted
Jan 22, 2025
Registry last updated
May 28, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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