Is stiripentol truly effective for treating primary hyperoxaluria?

Is stiripentol truly effective for treating primary hyperoxaluria?

Primary hyperoxaluria type I (PHI) is a rare inborn error of glyoxylate metabolism in the liver, leading to endogenous oxalate overproduction inducing hyperoxaluria. Disease hallmarks are severe nephrocalcinosis, recurrent urolithiasis and rapid chronic kidney disease (CKD), with early end-stage renal disease (ESRD) in infantile oxalosis. Liver/kidney transplantation is the only curative option, thus new non-invasive treatments are undoubtedly necessary [1]. Substrate reduction therapies via RNA interference (RNAi) are currently undergoing clinical trials, targeting either glycolate oxidase–RNAi or liver-specific lactate dehydrogenase (LDHA)-RNAi, aimed at reduce endogenous oxalate production and thus urinary oxalate (Uox) excretion.

Stiripentol, an LDHA-targeted oral commercial medication for Dravet syndrome, was recently reported to significantly reduce Uox in one PHI patient with good kidney function after 10 weeks of treatment [2,3]. Here we present our experience of stiripentol compassionate use in two PHI patients with different clinical conditions: CKD (Patient 1) and ESRD (Patient 2).


Access full article