The PRECISE Study:

Biomarkers and outcome predictors of pediatric nephrotic syndrome: a genetic, transcriptomic and secretome multiomics study


Financed under the European Joint Program on Rare Diseases (EJP-RD) call, the PRECISE study aims to identify novel non-invasive predictive biomarkers of the response to the treatment and the occurrence of relapses in children with idiopathic nephrotic syndrome (INS), using urine and blood as "liquid biopsies" in a large pediatric clinical cohort. The project will combine spectral flow cytometry, single-cell RNA sequencing, and a deep secretome multi-omics analysis.

The objectives are:

  • The characterization of INS clinical spectrum- natural history of INS progression and treatments.
  • The definition of the genetic/epigenetic modifications participating in the pathogenesis of INS.
  • The evaluation of adaptive immune system alterations in INS children.
  • The identification of specific protein patterns in serum and urine in different INS subtypes through multi-omics analyses.
  • The generation of predictive models of INS manifestation and progression through the integration of -omics, genetic, and clinical data.
Design:Open, multicenter, non-pharmacological observational study. The PRECISE provides both retro- and prospective longitudinal records on clinical, genetic as well as laboratory data.
Patients enrolled:

110 treatment-naive onset INS children (discovery phase).
200 prevalent INS children (validation phase).
40 children undergoing minor urological surgical corrections as the control group.

Coordinating Center:Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Pediatric Nephrology Dialysis and Transplantation Division, Milan, Italy
Consortium Partners:

University of Milano, Department of Clinical and Community Sciences, Milan.
Center for Pediatrics and Adolescent Medicine, Division of Pediatric Nephrology, Heidelberg.
Pediatric Nephrology, Children´s and Adolescents´ Hospital, University Hospital of Cologne, Faculty of Medicine, University of Cologne, Cologne.
Gdansk Medical University, Rare Diseases Centre and Department of Biology and Medical Genetics, Gdansk.
Istanbul University, Faculty of Medicine, Pediatric Nephrology Department, Istanbul.
Vilnius University Children's Hospital, Vilnius.

Additional Centers:ERKNet European Rare Kidney Disease Reference Network
ESCAPE European Paediatric Nephrology Centers