Fibroblast study of COL5A mutations and aortic aneurysms
Official title: Fibroblast Line Evaluation for COL5A eXpression and Thoracic Aortic Aneurysms: in Vitro Characterization of Cutaneous Fibroblasts in Adult Patients
Run by IRCCS Policlinico S. Donato · NCT07282717 · Data updated 2026-11-12
Researchers will test skin-derived fibroblasts from adults with COL5A mutations to see if cellular differences help explain why some people develop aortic aneurysms while others don’t.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 20 (estimated) |
| Sponsor | IRCCS Policlinico S. Donato Academic / other |
| Locations | 1 site (San Donato Milanese, Italy) |
| Status | Recruiting |
| Started | June 24, 2026 |
| Main results expected | January 2028 |
| Study ends | December 2028 |
| Registry record updated | July 2, 2026 |
| Trial ID | NCT07282717 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adults aged 18 or older with a confirmed COL5A mutation, including those with and without a documented aortic aneurysm.
✕Probably not a fit
Participants without COL5A mutations or with contraindications to skin biopsy are unlikely to benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study collects small skin biopsies from adults with COL5A mutations to derive fibroblasts. The cells are cultured to examine growth, migration, and how the extracellular matrix is formed, including collagen type V production. Researchers compare fibroblast behavior between participants with aortic aneurysms and those without, and also explore variations among family members sharing the same mutation. The goal is to identify cellular features linked to vascular risk that could inform future monitoring or personalized care. No interventions are described; the study focuses on cellular and molecular analyses in vitro.
Why it matters
Potential benefit: Finding cellular markers of higher or lower vascular risk could lead to improved monitoring or personalized management for people with COL5A mutations.
How similar studies have gone: Previous research in connective tissue disorders has shown that cellular differences can correlate with disease manifestations, supporting potential success for this approach.
Who can join: the full rules
Show full inclusion / exclusion 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 chronic topical steroids in the area of investigation * Subject on anticoagulant therapy * History of coagulation factor defects/alterations (data found in anamnesis and medical records) * A history of keloid formation (data found in anamnesis and medical records) * Anesthetic drug allergy (data found in anamnesis and medical records)
Where it's running
-
Cardiovascular Genetic Centre IRCCS Policlinico San Donato
San Donato Milanese, Italy, Italy Recruiting
Study contacts
- Study coordinator: Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree
- Email: segreteria.cardiogenetica@grupposandonato.it
- Phone: +39 0252774705
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.