Exploring new therapy options for cystinosis
Presented by Dr Manoe Janssen, Assistant Professor, Department of Pharmaceutical Sciences, Utrecht University, The Netherlands
Nephropatic Cystinosis is defined by high cystine accumulation inside the cells due to mutations in CTNS. Cysteamine is very effective in reducing these cystine levels, however this does not seem to restore proximal tubular function as the renal Fanconi syndrome persist. Here we use metabolomics and proteomics to gain insight in the pathways affected by CTNS loss in proximal tubular cells and to determine the ability of cysteamine and other compounds to restore these affected pathways. We identified a promising combination of bicalutamide and cysteamine which was able to restore many of the affected pathways in vitro. To make sure these compounds are safe to use together with cysteamine they should first be tested in animal models. Hopefully in the future these drugs can provide a valuable addition and also impact on the renal Fanconi syndrome.