ELX-02 Treatment Shows Promising Results in Nonsense Mutation Alport Syndrome Patients, Supporting Clinical Benefit

Eloxx Pharmaceuticals, a leader in ribosomal RNA-targeted genetic therapies for rare diseases, has announced positive results from a recent assessment of patient biopsies conducted by NIPOKA GmbH. The biopsies were analyzed using a highly accurate method developed by NIPOKA to quantify podocyte foot process morphology. The results confirm the previously reported positive biopsy results from the Phase 2 clinical trial of ELX-02 for the treatment of Nonsense Mutation Alport syndrome patients.

The analysis of the biopsy samples showed that ELX-02 treatment improved podocyte foot process morphology, with lower effacement observed in all three patients at the end of the 8-week study period. The improvement in kidney morphology is consistent with the reduction or stabilization of proteinuria during or up to 2 months post completion of dosing. This suggests a clinical benefit for patients with Nonsense Mutation Alport syndrome.

NIPOKA GmbH developed a Podocyte Exact Morphology Procedure (PEMP) to accurately quantify podocyte foot process morphology. The procedure utilizes immunostaining for foot-process specific protein markers followed by 3D-SIM imaging to measure Filtration Slit Density (FSD). Higher FSD indicates better podocyte health and lower foot process effacement. The analysis confirmed that ELX-02 treatment led to an average post-treatment increase in FSD of 60% compared to baseline levels.

The study also assessed the changes in Urine Protein-Creatinine ratio (UPCR) across patients during and after treatment. The results showed that all patients experienced proteinuria stabilization or improvement, further supporting the clinical benefit of ELX-02 treatment.

Renowned key opinion leaders have reviewed the data and overwhelmingly recommend the continued development of ELX-02. The positive biopsy results and clinical benefit observed in the study provide strong evidence of the potential disease-modifying effect of ELX-02, warranting advancement into a pivotal trial.

Nonsense Mutation Alport syndrome is a rare genetic disorder characterized by mutations in the genes responsible for Type IV Collagen production. It leads to progressive damage to the kidneys, ears, and eyes. Currently, there are no approved treatment options for patients with this syndrome.

Eloxx Pharmaceuticals is focused on developing ribosome modulation therapies using its innovative TURBO-ZM™ chemistry technology platform. ELX-02, the company’s lead investigational product candidate, aims to restore the production of full-length functional proteins. It is currently in Phase 2 clinical development for the treatment of Alport syndrome in patients with nonsense mutations.

The promising results from the assessment of patient biopsies provide hope for patients with Nonsense Mutation Alport syndrome and highlight the potential of ELX-02 as a treatment option. Eloxx Pharmaceuticals remains committed to advancing its research and development efforts to address the unmet needs of rare disease patients.