Pediatric Renal Biology Program Research on Nephrotic Syndrome

The proposal seeks to develop a multicentre collaboration for research on nephrotic syndrome, the most common cause of chronic renal disease in children. Development of a disease registry shall allow sharing of pre-determined variables on tow longitudinal cohorts of patients with nephrotic syndrome and form the framework on which inter-institutional clinical studies can be subsequently conducted. Another important aim of the collaboration shall be to set up a biorepository at participating institutions with common standard operating procedures. Data entry for both the registry and biorepository shall be anonymized so as to protect patient identity and maintain confidentiality. Information from the registry and materials obtained through the biorepository shall be available to collaborators across partnering institutes to address questions on disease pathogenesis and therapies in domains selected by them on the basis of their relevance and available expertise. Separate approvals shall be taken from individual Ethics Committees for each of these studies. In the current proposal, we propose to also perform whole genome sequencing that will allow us to characterize the burden of monogenic steroid resistant nephrotic syndrome in India and discover genetic variants that cause the condition or acts as disease modifiers. This information will help us to develop an appropriate and rational genetic screening algorithm that is cost effective and also provide potential molecular drug target for therapeutic interventions.

Our understanding of the pathogenesis of proteinuria, natural history and mechanistic basis of therapies in patients with steroid resistant nephrotic syndrome remains limited. Emphasis on clinical and bench research shall result in improved understanding of mechanisms of disease and precise phenotype- genotype correlation, especially in patients with steroid resistant nephrotic syndrome. On the medium term, this will enable research on novel and focused treatment options that impact the course of the illness, transforming into better clinical outcomes. On the long-term, this nationwide collaboration will result in capacity building in research, and foster opportunities for education and training for postgraduate students and younger faculty.