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Fibroblast Line Evaluation for COL5A eXpression and Thoracic Aortic Aneurysms: in Vitro Characterization of Cutaneous Fibroblasts in Adult Patients
Sponsor: IRCCS Policlinico S. Donato
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.
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
20
Start Date
2026-01-13
Completion Date
2028-12
Last Updated
2026-02-02
Healthy Volunteers
No
Locations (1)
Cardiovascular Genetic Centre IRCCS Policlinico San Donato
San Donato Milanese, Italy, Italy