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

NCT07282717 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2026-02-02

No results posted yet for this study

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.

Conditions

  • Mutations Affecting the COL5A Gene
  • Aneurysm Aortic

Sponsors & Collaborators

  • IRCCS Policlinico S. Donato

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-01-13
Primary Completion
2028-01-31
Completion
2028-12-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07282717 on ClinicalTrials.gov