Fibroblast Line Evaluation for COL5A eXpression and Thoracic Aortic Aneurysms: in Vitro Characterization of Cutaneous Fibroblasts in Adult Patients
Recruiting
Observational Study
Mutations Affecting the COL5A Gene
Aneurysm Aortic
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 18 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 20 (estimated)
- Sponsor
- IRCCS Policlinico S. Donato · Other
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About This Trial
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…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* Subjects aged 18 and above
* Mutation in COL5A
* Signed informed consent
Exclusion Criteria:
* Corticosteroid or Steroids or Fluorochinolones treatment within six months before enrollment
* Subjects on chronic immunosuppressive therapies such as oral steroids, but also on ch…
Contacts
Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree
+39 0252774705
segreteria.cardiogenetica@grupposandonato.it
CONTACT