Implementation of a Diagnostic Workflow for Personalized Diagnosis of Nephrotic Syndrome
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Enrollment
- 150
- Locations
- 2
- Primary Endpoint
- Role of anti-nephrin antibodies in the pathogenesis of NS
Study Overview
Brief Summary
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.
Study Design
- Study Type
- Interventional
- Allocation
- Non Randomized
- Intervention Model
- Parallel
- Primary Purpose
- Diagnostic
- Masking
- None
Eligibility Criteria
- Ages
- 1 Month to 40 Years (Child, Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •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
Exclusion Criteria
- •Age at onset above 40 years
- •Kidney biopsy proving lesions other than FSGS and MCD
Outcomes
Primary Outcomes
Role of anti-nephrin antibodies in the pathogenesis of NS
Time Frame: 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.
Secondary Outcomes
- 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))
Investigators
Paola Romagnani
Professor, MD, PhD
Meyer Children's Hospital IRCCS