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Fibroblast Line Evaluation for COL5A eXpression and Thoracic Aortic Aneurysms: in Vitro Characterization of Cutaneous Fibroblasts in Adult Patients

Recruitingn/aAges 18 Years - anyAllIRCCS Policlinico S. Donato
NCT07282717 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

This study examines adults with COL5A gene mutations to understand why some develop aortic aneurysms while others do not. Participants provide a small skin biopsy, and researchers analyze fibroblasts to evaluate collagen production, extracellular matrix organization, and connective-tissue signaling pathways. The goal is to identify biological differences that may explain variable vascular risk and support future personalized monitoring and treatment strategies.

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📋 Eligibility rules (as published)
Inclusion Criteria: * Subjects aged 18 and above * Mutation in COL5A * Signed informed consent Exclusion Criteria: * 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 * Subject on anticoagulant therapy * History of coagulation factor defects/alterations (data found in anamnesis and medical records) * A history of keloid formation (data found in anamnesis and medical records) * Anesthetic drug allergy (data found in anamnesis and medical records)
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What it tests

  • Not listed
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Where

1 site
Cardiovascular Genetic Centre IRCCS Policlinico San Donato
San Donato Milanese, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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