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

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.

NCT Number	NCT07282717
Lead Sponsor	IRCCS Policlinico S. Donato
Conditions	Mutations Affecting the COL5A Gene, Aneurysm Aortic
Enrollment	20 participants
Start Date	2026-06-24
Primary Completion	2028-01 (estimated)
Study Completion	2028-12 (estimated)
Updated on ClinicalTrials.gov	2026-07-02