Focal Segmental Glomerulosclerosis (FSGS), Minimal Change Nephrotic Syndrome, Nephrotic Syndrome Due to Idiopathic Membranous Nephropathy, Nephrotic Syndrome With Edema (Diagnosis)
Conditions
Brief summary
Nephrotic syndrome is a kidney condition that mainly affects children and is characterized by high levels of protein in the urine, low levels of protein in the blood, and swelling. While many children respond well to steroid treatment, a large proportion experience relapses or become dependent on therapy. In some cases, the disease does not respond to standard treatments and may progress to chronic kidney disease. Recent research suggests that, in addition to genetic factors, immune system mechanisms may play a key role in the development and progression of nephrotic syndrome. In particular, some patients produce autoantibodies against nephrin, an essential protein of the kidney filtration barrier. These autoantibodies may be associated with disease activity and treatment response. The aim of this study is to investigate the presence of anti-nephrin autoantibodies in children with nephrotic syndrome and to better understand their role in disease mechanisms and clinical outcomes.The study will also explore the presence of other autoantibodies targeting components of the glomerular filtration barrier. The study will use advanced laboratory techniques, including blood tests and detailed analysis of kidney biopsy samples, to identify these antibodies and their relationship with kidney structure and function. By integrating laboratory findings with clinical data, this study aims to improve the understanding of nephrotic syndrome and support the development of more personalized diagnostic and therapeutic strategies, with the goal of improving patient outcomes and reducing unnecessary or ineffective treatments.
Interventions
OTHERSerum and renal tissue analysis
Analysis of serum and renal biopsy material collected as part of routine clinical care. Laboratory procedures include ELISA assays for the detection of anti-nephrin and/or others anti-slit antibodies and advanced imaging techniques, such as high-resolution confocal microscopy and STED microscopy, performed for research purposes
Sponsors
Meyer Children's Hospital IRCCS
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Intervention model description
Participants are not assigned to therapeutic interventions. Biological samples and clinical data are collected within routine care.
Eligibility
Sex/Gender
ALL
Age
0 Years to 99 Years
Healthy volunteers
No
Inclusion criteria
* Pediatric and adult patients with a diagnosis of podocytopathy * Patients with nephrotic syndrome and/or histological diagnosis of minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), collapsing glomerulopathy (CG), or diffuse mesangial sclerosis (DMS) * Both newly diagnosed (incident) patients and patients already under follow-up at participating centers * Availability of clinical data from medical records (including paper and/or electronic records, laboratory reports, and discharge summaries) * Availability of biological samples (e.g., blood and/or renal biopsy), if collected as part of routine clinical care * Signed informed consent by the patient or legal guardian (and assent when applicable)
Exclusion criteria
* Refusal or inability of the patient, parents, or legal guardian to provide informed consent * Lack of sufficient clinical data or unavailable biological samples required for the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Analysis of anti-nephrin antibody levels | From enrollment through 5 years of follow-up | Detection of circulating anti-nephrin antibodies in serum by ELISA and localization of antibody binding in renal biopsy tissue using high-resolution confocal and STED microscopy. |
Countries
Germany, Italy, Mexico, Spain, United States
Contacts
CONTACTPaola Romagnani, MD, PhD
Outcome results
None listed