Implementation of a Diagnostic Workflow for Personalized Diagnosis of Nephrotic Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 150
- 试验地点
- 1
- 主要终点
- Role of anti-nephrin antibodies in the pathogenesis of NS
研究概览
简要总结
Nephrotic syndrome (NS) is a clinical picture common to several diseases resulting from damage to podocytes and glomerular filtration barrier. Currently, there is limited consensus regarding the diagnostic pathway and management of the specific etiology. Some patients show complete response to first-line steroid therapy (steroid-sensitive nephrotic syndrome, SSNS), especially in children and young adults. The prognosis of this group is generally favorable. In contrast, patients unresponsive to steroids (steroid-resistant NS, SRNS) frequently undergo immunosuppressive therapies, which are burdened with numerous side effects. Resistance to treatment is associated with a high likelihood of progression to chronic renal disease (CKD) and kidney failure (ESKD). Recent evidence suggests that immunological mechanisms (including permeabilizing factors) are involved in the pathogenesis of post-transplant NS recurrence and SSNS.
Providing patients with NS with a correct diagnosis is the cornerstone of personalized medicine, reducing morbidity and side effects of therapies, ensuring their appropriate prescription, and slowing or preventing progression to ESKD.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 1 Month 至 40 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of NS (SSNS, SRNS, or NS relapsed after transplantation regardless of initial response to steroid therapy)
- •Age below 40 years at disease onset
- •Availability of clinical information
- •Signed informed consent form
排除标准
- •Age at onset above 40 years
- •Kidney biopsy proving lesions other than FSGS and MCD
研究组 & 干预措施
Patients with SSNS
Patients with SSNS and patients undergoing renal transplantation for NS with post-transplant disease recurrence will be enrolled for serum sampling for the study of immunological and/or permeabilizing factors (including anti-nephrin antibodies).
干预措施: Anti-nephrin antibodies (Diagnostic Test)
Patients with SRNS undergoing genetic testing by WES
Patients with SRNS undergoing genetic testing by WES and variant prioritization will undergo serum sampling for the study of immunologic and/or permeabilizing factors (including the anti-nephrin antibodies), and urine sampling for u-RPC cultures.
干预措施: Anti-nephrin antibodies (Diagnostic Test)
Patients with SRNS undergoing genetic testing by WES
Patients with SRNS undergoing genetic testing by WES and variant prioritization will undergo serum sampling for the study of immunologic and/or permeabilizing factors (including the anti-nephrin antibodies), and urine sampling for u-RPC cultures.
干预措施: u-RPC cultures (Diagnostic Test)
结局指标
主要结局
Role of anti-nephrin antibodies in the pathogenesis of NS
时间窗: From enrollment until the last patient visit (up to 12 months from enrollment)
The presence of circulating permeabilizing factors, including anti-nephrin antibodies, will be evaluated in serum samples of patients with NS and/or kidney transplant recipients with NS recurrence. The results will be correlated with the clinical history of disease in order to understand the disease pathomechanisms and the risk of recurrence.
次要结局
- Cost-effectiveness analysis(From enrollment of the last patient until the last visit (up to 12 months from enrollment))
- Identification of potential predictive biomarkers of renal outcome.(From enrollment until the last patient visit (up to 12 months from enrollment))
- Functional role of VUS in the pathogenesis of SRNS(From enrollment until the last patient last visit (up to 12 months from enrollment))
研究者
Paola Romagnani
Professor, MD, PhD
Meyer Children's Hospital IRCCS