Condition: Mutations Affecting the COL5A Gene · Aneurysm Aortic · Sponsor: IRCCS Policlinico S. Donato
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.
This description comes directly from the study's public registry record.
Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree · +39 0252774705 · segreteria.cardiogenetica@grupposandonato.it
Nathasha Samali Udugmpolage · +39 0252774705 · Nathasha.Udugampolage@grupposandonato.it
Always discuss trial participation with your own doctor first.
| Cardiovascular Genetic Centre IRCCS Policlinico San Donato | San Donato Milanese, Italy, Italy | Recruiting |
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Source record: clinicaltrials.gov/study/NCT07282717