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

NCT06786754 | Enrolling By Invitation

• 1 other identifier: FIBRA
• Study Type: observational
• Target: 15
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Fibroblasts; Collagen turnover; thoracic aortic aneuryms

Outcome Measures

Primary Outcomes (2)

• Fibroblasts phenotype: cell morphology and migration

  cell morphology: phase-contrast microscopy

  12 months

• Fibroblasts phenotype: cell morphology and migration

  Cell migration: wound healing assay (scratch test).

  12 months

Secondary Outcomes (3)

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

  16 months

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

  16 months

• Levels of metalloproteinases involved in ECM degradation

  24 months

Study Arms (3)

Syndromic TAA

Presence of thoracic aortic aneurysms and pleiotropic effects

Non-syndromic TAA

Presence of thoracic aortic aneurysms without pleiotropic effects

Healthy Controls

healthy volunteers from the general population, matched fro age with the two case groups

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

resaerch hospital for rare cardiovascular diseases

You may qualify if:

• signed informed consent; subjects aged 18 years and above.
• 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);
• absence of any aortic/thoracic disease;

You may not qualify if:

• 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).

Sponsors & Collaborators

• IRCCS Policlinico S. Donato: lead
• University of Milan: collaborator

Study Sites (1)

Cardiovascular Genetic Centre IRCCS Policlinico San Donato

San Donato Milanese, Milan, 20097, Italy

Location

Related Publications (3)

• Ignotz RA, Massague J. Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix. J Biol Chem. 1986 Mar 25;261(9):4337-45.

  PMID: 3456347 BACKGROUND

• Lu P, Takai K, Weaver VM, Werb Z. Extracellular matrix degradation and remodeling in development and disease. Cold Spring Harb Perspect Biol. 2011 Dec 1;3(12):a005058. doi: 10.1101/cshperspect.a005058.

  PMID: 21917992 BACKGROUND

• Plikus MV, Wang X, Sinha S, Forte E, Thompson SM, Herzog EL, Driskell RR, Rosenthal N, Biernaskie J, Horsley V. Fibroblasts: Origins, definitions, and functions in health and disease. Cell. 2021 Jul 22;184(15):3852-3872. doi: 10.1016/j.cell.2021.06.024.

  PMID: 34297930 BACKGROUND

Biospecimen

Retention: SAMPLES WITHOUT DNA

Fibroblasts

MeSH Terms

Conditions

Rare Diseases; Aortic Aneurysm, Thoracic; Marfan Syndrome

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Aortic Aneurysm; Aneurysm; Vascular Diseases; Cardiovascular Diseases; Aortic Diseases; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 9, 2025
• First Posted: January 22, 2025
• Study Start: June 17, 2025
• Primary Completion: December 1, 2025
• Study Completion: February 1, 2026
• Last Updated: September 10, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)