Data from RaDaR natural history study indicates that Alport syndrome patients with autosomal recessive COL4A4 mutations have severest disease, with a more rapid progression to kidney failure
Patient that achieved remission in Eloxx Phase 2 trial had autosomal recessive COL4A4 nonsense mutation resulting in a truncated protein
RaDaR registry data further supports decision to advance into a pivotal trial in Alport syndrome with nonsense mutations
Overall, data from RaDaR natural history study, which included 920 patients in the analysis, demonstrated that the observed effect of mutation type on renal outcomes varied by gene affected, number of mutations, and gender. One key finding indicates that approximately 11% of Alport syndrome patients have autosomal recessive COL4A4 mutations and have severest disease. The subset of these patients with truncated COL4A4 proteins, had a 2- to 3-fold more rapid progression to kidney failure compared to patients with truncated COL4A5 proteins with male patients having the worst outcomes.
In the current Phase 2 study in patients with Alport syndrome, the first two patients for which the company has provided data were both males with autosomal recessive COL4A4 nonsense mutations resulting in a truncated COL4A4 protein. As these patients have this highly progressive autosomal recessive disease, Eloxx believes a remission in even one patient is highly clinically significant.
“Rare diseases benefit from natural history studies to help researchers understand disease progression and help inform meaningful clinical intervention. Our work to advance ELX-02 for Alport patients has been targeted to those with nonsense mutations. We now know that patients with the COL4A4 mutation are the most at risk for rapid advancement to kidney failure. This RaDaR registry data, coupled with recently announced results from our Phase 2 trial, give us even greater confidence in our decision to advance into a pivotal trial in Alport syndrome with nonsense mutations,” said
About Alport syndrome
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.
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Source: Eloxx Pharmaceuticals