Eloxx Pharmaceuticals, a leader in ribosomal RNA-targeted genetic therapies for rare diseases, has highlighted recent Alport syndrome natural history data presented at the 60th ERA (European Renal Association) Congress. The RaDaR natural history study indicates that patients with autosomal recessive COL4A4 mutations have the severest form of the disease, with a more rapid progression to kidney failure. Eloxx's Phase 2 trial showed that patients who achieved remission had autosomal recessive COL4A4 nonsense mutation resulting in a truncated protein. RaDaR registry data further supports Eloxx's decision to advance into a pivotal trial in Alport syndrome with nonsense mutations.
Alport syndrome is a genetic disorder characterized by kidney disease, hearing loss, and eye abnormalities caused by mutations in genes needed for the production of type 4 collagen. Approximately 6% to 7% of Alport syndrome patients are estimated to have nonsense mutations, which have no disease-modifying treatment options.
The RaDaR natural history study collected longitudinal data from the National Registry of Rare Kidney Diseases (RaDaR) and included