Eloxx Pharmaceuticals, a leader in ribosomal RNA-targeted genetic therapies for rare diseases, recently held a key opinion leader (KOL) event to discuss the significant unmet medical needs of patients with Alport syndrome. The event featured two renowned experts in Alport syndrome: Professor Detlef Bockenhauer and Professor Rachel Lennon. Alport syndrome is a rare progressive hereditary glomerular kidney disease caused by variants in COL4A, and there are currently no disease modifying treatments available.
During the KOL event, Professor Lennon highlighted that the current standard of care for Alport syndrome is supportive care, as there is no approved therapy. The objective is to reduce persistent proteinuria to a lower level, but ultimately many patients progress to requiring dialysis or a kidney transplant. However, one patient in Eloxx's Phase 2 ELX-02 trial achieved remission with a substantial reduction in proteinuria. This is significant because spontaneous remission is not typically seen in this chronic progressive disease.