Implementation of a Diagnostic Workflow for Personalized Diagnosis of Nephrotic Syndrome

NCT ID: NCT06325098

Last Updated: 2024-03-22

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 150 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-01-26
• Study Completion Date: 2026-06-30

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.

Conditions

Nephrotic Syndrome

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Study Groups

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).

Group Type: EXPERIMENTAL

Anti-nephrin antibodies

Intervention Type: DIAGNOSTIC_TEST

Assessment of anti-nephrin antibodies on serum samples and in vitro study of permeabilizing effect on 3D organ-on-a-chip models and STED microscopy on healthy human kidneys.

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.

Group Type: EXPERIMENTAL

Anti-nephrin antibodies

Intervention Type: DIAGNOSTIC_TEST

Assessment of anti-nephrin antibodies on serum samples and in vitro study of permeabilizing effect on 3D organ-on-a-chip models and STED microscopy on healthy human kidneys.

u-RPC cultures

Intervention Type: DIAGNOSTIC_TEST

Urine sample collection for u-RPC cultures

Interventions

Anti-nephrin antibodies

Assessment of anti-nephrin antibodies on serum samples and in vitro study of permeabilizing effect on 3D organ-on-a-chip models and STED microscopy on healthy human kidneys.

Intervention Type: DIAGNOSTIC_TEST

u-RPC cultures

Urine sample collection for u-RPC cultures

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

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

• Minimum Eligible Age: 1 Month
• Maximum Eligible Age: 40 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Meyer Children's Hospital IRCCS

OTHER

Sponsor Role: lead

Responsible Party

Paola Romagnani

Professor, MD, PhD

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Meyer Children's Hospital IRCCS

Florence, , Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Paola Romagnani, Prof, MD, PhD

Role: CONTACT

paola.romagnani@meyer.it

055 5662562

Facility Contacts

Paola Romagnani

Role: primary

Other Identifiers

PER-NEPH

Identifier Type: -

Identifier Source: org_study_id