The U.S. Food and Drug Administration (FDA) has approved RNAi drug, lumasiran, to treat primary hyperoxaluria type 1 (PH1).

PH1 is a rare genetic condition that is often difficult to diagnose since its main symptom is the development of kidney stones. These rare type of kidney stones are formed due to the build up of oxalate, which normally is filtered through the kidneys and excreted. PH1 is due to mutations in the AGXT gene. PH2 is due to mutations in the GRHPR gene, and PH3 is due to mutations in the HOGA1 gene.

The FDA approval was largely based on two clinical studies—one in patients six years and older and one in patients younger than six years. Both studies showed dramatic improvement in urinary oxalate levels. 

Lumasiran targets hydroxyacid oxidase 1 (HAO1), the gene that encodes glycolate oxidase. By doing so, lumasiran inhibits the production of oxalate, the metabolite that directly contributes to the pathophysiology of PH1.

In an exclusive interview with CheckRare,  Pritesh J. Gandhi, PharmD of Alnylam Pharmaceuticals provides an overview of PH1 as well as the programs the company has in place to treat all severities of PH1. 

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