Eloxx Pharmaceuticals, Inc. announced that the first patients have now been enrolled in its Phase 2 study of ELX-02 for the treatment of Alport syndrome in patients with nonsense mutations. This Phase 2 trial is targeting dosing of up to eight Alport syndrome patients with nonsense mutations in the COL4 gene. Patients will be dosed for two months with a three month follow-up.

In addition to the primary endpoint of safety, the key secondary efficacy endpoint of proteinuria will be measured every two weeks. For eligible patients, induction of COL IV will also be measured at the end of two months. Topline results are expected in the first half of 2023.

Alport syndrome is a genetic disorder characterized by kidney disease with high levels of proteinuria, hearing loss and eye abnormalities caused by mutations in the genes (COL4A3, COL4A4, and COL4A5) needed for production of type 4 collagen. Approximately 6% to 7% of Alport syndrome patients, or approximately 9,400 to 12,750 individuals, are estimated to have nonsense mutations. These patients have significantly worse clinical outcomes than other Alport patients and have no disease modifying treatment options.

Nonsense mutations cause a premature stop codon in the mRNA resulting in less than full length or loss of function proteins. These remain highly underserved with no approved disease modifying therapies. An estimated 10-12% patients across over 8,000 inherited genetic rare diseases harbor nonsense mutations in one or both alleles harboring nonsense mutations.