Fibroblast Line Evaluation for COL5A eXpression and Thoracic Aortic Aneurysms: in Vitro Characterization of Cutaneous Fibroblasts in Adult Patients
Key facts
- Who runs it
- IRCCS Policlinico S. Donato
- Where
- San Donato Milanese, ItalySee the site
- Trial code
- Status
- Recruiting
- People taking part
- 20 people, planned
- Started
- 24 Jun 2026
- Expected to end
- Dec 2028
- Type of study
- Observational, 4 groups
- Record updated
- 2 July 2026
Who can take part
- Age
- 18 years and older
- Sex
- Women and men
- Healthy volunteers
- Cannot take part
The registry criteria, word for word
Show all 9 criteriaShow less
Who can take part
- Subjects aged 18 and above
- Mutation in COL5A
- Signed informed consent
Who cannot take part
- 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 in Italy
- Cardiovascular Genetic Centre IRCCS Policlinico San DonatoSan Donato Milanese, ItalyContact: Nathasha Samali UDUGAMPOLAGETaking people
About the trial
What the trial wants to find out
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.
The 4 groups in the trial
- Adult patients with COL5A with TAAD
Adult patients (aged over 50 years) with COL5A mutation and aortic manifestations
- Adult patients with COL5A mutation without TAAD
Adult patients (aged over 50 years) with COL5A mutation in the absence of aortic manifestations
- Young patients with COL5A mutation and TAAD
Young patients (aged 18-50 years) with COL5A mutation and aortic manifestations
- Young patients with COL5A mutation without TAAD
Young patients (aged 18-50 years) with COL5A mutation in the absence of aortic manifestations
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Record updated
- 2 July 2026