Pathogenic Mechanisms Involved in the Initiation and Progression of Systemic Sclerosis
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 15
- 主要终点
- Identify rare variants in candidate genes and pathways in SSC patients (blood and skin biopsy)
研究概览
简要总结
Identify rare variants in candidate genes and pathways identified in familial SSc, in patients with sporadic SSc.
Perform (spatial) transcriptomic and proteomic analyses of affected skin from patients with and without cutaneous fibrosis, for the patterns and levels of expression/activation of candidate genes and pathways.
Test for dysregulation of expression/activation of candidate genes and pathways in live cells isolated from the blood and skin biopsy of patients, and for the impact of these dysregulations on cell appearance, behavior and function.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients diagnosed with one of the following:
- •Limited SSc
- •Limited cutaneous SSc
- •Diffuse cutaneous SSc
- •Patients followed regularly in consultations at CUSL.
- •Patients between ages 18-80.
排除标准
- •Other (co-occurring) autoimmune/autoinflammatory disease
- •Pregnancy
- •Participants with temporary or definitive disabilities to give consent
- •Participants unable to sign or read the inform consent form
研究组 & 干预措施
PathSSc
干预措施: cutaneous biospy (Procedure)
结局指标
主要结局
Identify rare variants in candidate genes and pathways in SSC patients (blood and skin biopsy)
时间窗: Through the entire study, approximately during 5 years
Genetic analyses in affected skin from patients (Next Generation sequencing, (single cell) RNASeq, real time qPCR)
次要结局
未报告次要终点