Eloxx Pharmaceuticals, Inc. reported additional positive results from its proof-of-concept Phase 2 open-label clinical trial (NCT05448755) of ELX-02 for the treatment of Alport syndrome after eight weeks of treatment. Electron microscopy assessment of kidney biopsies demonstrated an improvement in foot process effacement in all three treated patients. These results are consistent with the disease modifying effect of restoration of COL4A4 protein with ELX-02 and with previously reported data from preclinical studies.

Alport syndrome, a rare genetic kidney disorder caused by mutations in COL4A3/4/5 genes, is characterized by podocyte injury and impaired kidney filter function leading to proteinuria. Podocytes are specialized cells that bind to the glomerular basement membrane and form finger-like extensions called foot processes that enable efficient ultrafiltration. Podocyte injury leads to the effacement (loss) of podocyte foot processes and proteinuria in nearly all cases of Alport syndrome.

This is the first potential therapy for Alport syndrome that has shown an improvement of podocyte foot process effacement. Electron microscopy assessment of the kidney biopsies in the Phase 2 study showed a reduction in podocyte foot process effacement, indicative of the disease modifying impact of ELX-02 all three patients. In two patients, widespread foot process effacement was improved to segmental foot process effacement.

In the third patient, moderate to severe foot process effacement was improved to moderate only. Eloxx previously announced achievement of a rapid and sustained remission in one patient in the Phase 2 clinical trial. Based on the results from the Phase 2 trial, Eloxx intends to advance ELX-02 into pivotal trial for the treatment of Alport syndrome with nonsense mutations.