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:

Italy: 
University of Milano, Department of Clinical and Community Sciences, Milan.
Germany:
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.
Poland: 
Gdansk Medical University, Rare Diseases Centre and Department of Biology and Medical Genetics, Gdansk.
Turkey:
Istanbul University, Faculty of Medicine, Pediatric Nephrology Department, Istanbul.
Lithuania: 
Vilnius University Children's Hospital, Vilnius.

Additional Centers:ERKNet European Rare Kidney Disease Reference Network
ESCAPE European Paediatric Nephrology Centers
Contact Information:giovanni.montini@policlinico.mi.it
federica.collino@unimi.it