Implementation of a Diagnostic Workflow for Personalized Diagnosis of Nephrotic Syndrome

Meyer Children's Hospital IRCCS

Status: Enrolling

Conditions: Nephrotic Syndrome

Treatments: Diagnostic Test: u-RPC cultures; Diagnostic Test: Anti-nephrin antibodies

Study type: Interventional

Funder types: Other

Identifiers

NCT06325098

PER-NEPH

Details and patient eligibility

About

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.

Enrollment: 150 estimated patients

Sex: All

Ages: 1 month to 40 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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150 participants in 2 patient groups

Patients with SSNS

Experimental group

Description:

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).

Treatment:

Diagnostic Test: Anti-nephrin antibodies

Patients with SRNS undergoing genetic testing by WES

Experimental group

Description:

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.

Treatment:

Diagnostic Test: Anti-nephrin antibodies

Diagnostic Test: u-RPC cultures