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Enrolling by invitation NCT06786754

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

— Observational Rare Diseases Thoracic Aortic Aneurysm (TAA) Marfan Syndrome

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Rare Diseases, Thoracic Aortic Aneurysm (TAA), Marfan Syndrome. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Italy
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

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

Overview

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.

Primary outcome measures

  • Fibroblasts phenotype: cell morphology and migration [Time frame: 12 months]
  • Fibroblasts phenotype: cell morphology and migration [Time frame: 12 months]
Secondary outcome measures (3)
  • Expression of genes and proteins involved in collagen turnover and extracellular matrix remodeling pathways [Time frame: 16 months]
  • Expression of genes and proteins involved in collagen turnover and extracellular matrix remodeling pathways [Time frame: 16 months]
  • Levels of metalloproteinases involved in ECM degradation [Time frame: 24 months]

Eligibility 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).

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Case-control

Study locations

Italy · 1 center
  • Cardiovascular Genetic Centre IRCCS Policlinico San Donato — San Donato Milanese

Publications

  • 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
  • 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):10.1101/cshperspect.a005058 a005058. doi: 10.1101/cshperspect.a005058. PMID 21917992
  • 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

Identifiers

NCT: NCT06786754 · FIBRA

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗