Aneurysm Aortic, Mutations Affecting the COL5A Gene
Conditions
Keywords
COL5A, FIBROBLASTS, ascending and descending aortic aneurysms, thoracic aortic aneurysms
Brief summary
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.
Detailed description
Individuals with mutations in the collagent type V, alpha (COL5A) gene show variable clinical outcomes. While some develop aortic aneurysms, others with the same mutation remain free of cardiovascular complications. The mechanisms driving this variability are not fully understood. This study aims to investigate biological differences at the cellular level by analyzing fibroblasts derived from a small skin biopsy. Fibroblasts play a key role in the production and organization of type V collagen and the extracellular matrix. Researchers will: Grow fibroblasts from participants' skin samples. Assess cell growth, migration, and extracellular matrix formation. Measure the quantity and type of collagen produced. Evaluate molecules involved in collagen breakdown and repair. The study compares individuals with COL5A mutations who have documented aortic aneurysms to those with the same mutation but no vascular involvement. Analyses will also consider differences among family members who share the same genetic variant. By characterizing fibroblast behavior, the study seeks to clarify why some individuals develop aortic disease while others remain unaffected. Findings may help identify cellular features associated with increased or reduced vascular risk and guide future strategies for monitoring, prevention, and personalized care in patients with COL5A mutations.
Interventions
None listed
Sponsors
IRCCS Policlinico S. Donato
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Fibroblasts phenotype | 24 months | In vitro characterization and evaluation of fibroblasts phenotype in adult patients with COL5A mutations with or without aortic involvement (ascending and descending aortic aneurysms) |
| Differences molecular mechanisms in collagen | 24 months | Identify differences in molecular mechanisms involved in collagen and ECM turnover pathways between family members according to the vascular manifestation and the genetic mutation in COL5A gene |
Countries
Italy
Contacts
CONTACTAlessandro Pini Alessandro Giorgio Pini,MD, Medical degree
CONTACTNathasha Samali Udugmpolage
Outcome results
None listed