Idiopathic Nephrotic Syndrome is a rare disease of the kidneys, which typically affects children. For most affected children there is the need of a prolonged treatment with drugs reducing the activity of the immune system, also resulting in many side effects. Those patients, who do not respond to treatment, are at risk of kidney damage and of dialysis or kidney transplantation. It is currently impossible to predict the response to treatment, leading to unnecessary therapies with side effects as well as unclear prognosis in the affected children. The response of the idiopathic nephrotic syndrome to medications acting on the immune system explains its important role in the occurrence of the disease.
With this study we aim to obtain predictors of the response to treatment right at the beginning of the disease, to adapt the therapy avoiding needless side effects. This will be done evaluating the blood and urine of affected children using state of the art molecular characterisation. We will evaluate the genetic predisposition, the cell trait changes and the presence of molecules in blood and urine that may affect the interaction between the immune system and the kidneys. We expect that the findings will improve treatment of children with idiopathic nephrotic syndrome and reduce the number of children suffering from unnecessary drugs related side effects.
Clinical diagnosis of idiopathic nephrotic syndrome (INS) with nephrotic range proteinuria (uPr/uCr ratio > 2 mg/mg).
Hypoalbuminemia with serum albumin < 3.0 g/dL.
Presence of edema.
No prior treatment for idiopathic nephrotic syndrome.
Diagnosis of congenital or infantile nephrotic syndrome (age < 1 year).
Diagnosis of secondary nephrotic syndrome.
Presence of glomerulonephritis, autoimmune diseases, or vasculitis.
Lack of signed informed consent by a parent or legal guardian.
The study participants will be selected from a population of pediatric patients with idiopathic nephrotic syndrome (INS) who are treatment-naive and present with clinical symptoms such as proteinuria, hypoalbuminemia, and edema. These patients, aged 1 to 18 years, are typically referred to specialized nephrology clinics or tertiary care centers across Europe, where they receive initial diagnosis and follow-up care. The participant pool is drawn from both primary recruiting centers, which are large pediatric nephrology units with established expertise in managing nephrotic syndrome, and additional collaborating centers within the European ERKNet and ESCAPE Networks. This setting ensures a broad representation of pediatric INS cases across various European regions, enhancing the study's generalizability. Additionally, a control group of age-matched children without nephrotic syndrome is included, selected from children undergoing minor urological procedures in these clinical settings.
Other
Prospective
Not listed
Predictive Molecular Signature of INS Progression
Identification of distinct molecular characteristics predictive of the progression of idiopathic nephrotic syndrome (INS). This includes differentiating between steroid-resistant nephrotic syndrome (SRNS), steroid-dependent nephrotic syndrome (SDNS), and infrequent relapsing nephrotic syndrome (IRNS). Measure Type: Analysis of genetic/epigenetic background, immune status, and vesicular proteome/transcriptomic profile. Goal: Develop a biomarker-based predictive model that assists in early classification of INS subtypes.
Genetic and Epigenetic Risk Factors
Quantification of kidney- and immune-related genetic variants associated with INS incidence and disease progression. Measure Type: Number of risk variants in kidney and immune-related genes, along with methylation profiles showing hypomethylated and hypermethylated regions related to immune function and progression to kidney failure .
Immune System Alterations
Analysis of adaptive immune system changes in INS patients. Measure Type: Proportion and absolute numbers of B and T cell subpopulations, changes in immune cell subset genes, and phosphorylation sites in primary immune cells. Goal: Examine immune profiles associated with disease subtypes to better understand immunologic drivers of INS .
Proteomic Patterns in Serum and Urine
Identification of unique protein profiles in serum and urine that correlate with different INS subtypes. Measure Type: Analysis of extracellular vesicle concentration and size in urine, surface proteome of extracellular vesicles, and serum proteome characteristics in different INS groups. Goal: Detect specific proteomic markers linked to disease phenotype and progression .
Molecular Profile of Healthy Control Group
Comprehensive molecular characterization of healthy children to establish a baseline for comparison with INS patients. Measure Type: Similar profiling as for INS patients, focusing on genetic and proteomic markers. Goal: Differentiate between disease-specific and baseline molecular signatures .
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Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Lead sponsor
Fondazione La Nuova Speranza ONLUS
Collaborator
ASSOCIAZIONE SINDROME NEFROSICA ITALIA
Collaborator
Nephie e.V.
Collaborator
NephCEurope
Collaborator
European Joint Programme on Rare Diseases (EJP RD JTC 2023)
Collaborator
ERKNet
Collaborator
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