Not Yet RecruitingNot Applicable

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

Italy20 participantsStarted 2026-01-13

Plain-language summary

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.

Who can participate

Age range18 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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)

What they're measuring

Fibroblasts phenotype

Timeframe: 24 months

Differences molecular mechanisms in collagen

Timeframe: 24 months

Trial details

NCT IDNCT07282717

SponsorIRCCS Policlinico S. Donato

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2028-01

Contact for this trial

Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree

+39 0252774705 segreteria.cardiogenetica@grupposandonato.it