Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

The Netherlands
NTC study
Novel Therapies for Cystinosis

Project Coordinator

Ospedale Pediatrico Bambino Gesù Pediatric Nephorlogy and Dialysis


Paul Goodyear McGill University Montreal, Canada
Elena Levtchenko Katholieke Universiteit Leuven Leuven, Belgium
Rosalinde Masereeuw Radboud University medical center Nijmegen, The Netherlands

Infantile cystinosis is a rare disease secondary to mutations in the CTNS gene, which cause early onset renal failure followed by numerous symptoms related to progressive lysosomal cystine accumulation in all cells of the body and to alteration of other metabolic pathways that have been elucidated in recent years. In this application, four different groups with extensive experience in the fields of cystinosis, pharmacology/toxicology and cell-based therapies, and with a track record of successful collaboration between each other, propose to join forces to develop new therapeutic approaches using cell and animal models that have been developed for the most part in their laboratories. The application is divided in 3 specific aim. In specific aim #1, we propose to test on zebrafish and mouse models of cystinosis a selective number of compounds that have been identified by screening a 1200 molecule library for drugs that reduce cystine content in cultured cystinotic proximal tubular cells. In specific aim #2, we propose to perform two additional high throughput screenings using different readouts, namely decreased activation of the inflammosome and correction of the phenotype of Ctns -/- zebrafish embryos. These studies will be complemented by toxicology and pharmacology experiments to test the safety and therapeutic index of candidate drugs. Finally, in specific aim #3, we propose to test the capacity of human CD24(+)/CD133(+) renal progenitor cells to efficiently repopulate renal proximal tubular cells and to correct the renal phenotype of cystinotic NOD/SCID mice.

E-Rare 2012 - Created by Toussaint Biger