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From pathogenesis to novel therapies in primary hyperoxaluria

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Published:6th Dec 2018
Author: Rumsby G, Hulton SA.
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Ref.:Expert Opinion on Orphan Drugs, 7:2, 57-66.
From pathogenesis to novel therapies in primary hyperoxaluria

The primary hyperoxalurias are inherited disorders of endogenous oxalate overproduction, that can result in renal failure and systemic oxalosis with potentially fatal outcome. The prevention of oxalate synthesis or reduction of oxalate accumulation must be the aim of any potential treatment.

Areas covered: Following the description of the disorders and their pathogenesis, the different treatment strategies for primary hyperoxaluria will be described including conservative management, transplantation, gene therapy, RNA interference for substrate reduction and disruption of oxalate synthesis, as well as the potential for Crispr/Cas9 gene editing.

Expert opinion: Reduction of urine oxalate is typically used as an end point to define efficacy of treatment, but the high biological variability of this analyte and differences between analytical assays do need to be taken into account; clinical trials should use a single center for analysis of samples from individual patients. Dialysis and transplantation are the current mainstays of treatment for these disorders, but RNAi offers future promise. This method, by targeting enzymes involved in the synthesis or metabolism of glyoxylate, is not beset by immunological problems and, assuming no off-target issues, can potentially lead to a reduction in oxalate synthesis either by preventing synthesis or degradation of the precursor, glyoxylate.

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