Fibroblast Line Evaluation for COL5A eXpression and Thoracic Aortic Aneurysms: in Vitro Characterization of Cutaneous Fibroblasts in Adult Patients
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- Fibroblasts phenotype
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Subjects aged 18 and above
- •Mutation in COL5A
- •Signed informed consent
排除标准
- •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)
研究组 & 干预措施
Young patients with COL5A mutation and TAAD
Young patients (aged 18-50 years) with COL5A mutation and aortic manifestations
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 without TAAD
Young patients (aged 18-50 years) with COL5A mutation in the absence of aortic manifestations
结局指标
主要结局
Fibroblasts phenotype
时间窗: 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
时间窗: 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
次要结局
未报告次要终点
研究者
Alessandro Pini
Director
IRCCS Policlinico S. Donato