Clinical Research Directory

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Mutations Affecting the COL5A Gene

Tundra lists 1 Mutations Affecting the COL5A Gene clinical trial. Each listing includes eligibility criteria, study locations, and direct links to research sites in the Tundra directory.

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NOT YET RECRUITING

NCT07282717

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.

Gender: All

Ages: 18 Years - Any

Updated: 2026-02-02

1 state

Mutations Affecting the COL5A Gene

Aneurysm Aortic