Eloxx Pharmaceuticals highlights recent Alport syndrome natural history data

Eloxx Pharmaceuticals highlighted recent Alport syndrome natural history data presented at the 60th ERA, European Renal Association, Congress. Katie Wong, Clinical Research Fellow at University College London Department of Renal Medicine, presented “Alport Syndrome Natural History from the RaDaR Registry: Associations with gene, variant type and sex”, a natural history study that aims to describe demographics and investigate renal outcomes associated with pathogenic mutations in Alport syndrome patients. Longitudinal data is collected from the National Registry of Rare Kidney Diseases which recruits patients at 108 UK renal clinics. Eloxx’s Ali Hariri, M.D., Chief Medical Officer of Eloxx, was involved in the study. Overall, data from RaDaR natural history study, which included 920 patients in the analysis, demonstrated that the observed effect of mutation type on renal outcomes varied by gene affected, number of mutations, and gender. One key finding indicates that approximately 11% of Alport syndrome patients have autosomal recessive COL4A4 mutations and have severest disease. The subset of these patients with truncated COL4A4 proteins, had a 2- to 3-fold more rapid progression to kidney failure compared to patients with truncated COL4A5 proteins with male patients having the worst outcomes. In the current Phase 2 study in patients with Alport syndrome, the first two patients for which the company has provided data were both males with autosomal recessive COL4A4 nonsense mutations resulting in a truncated COL4A4 protein. As these patients have this highly progressive autosomal recessive disease, Eloxx believes a remission in even one patient is highly clinically significant.