Primaire hyperoxalurie: van trials naar real-world data en pijplijntherapieën

Primary hyperoxalurias (PHs) are a group of rare autosomal recessive disorders of glyoxylate metabolism leading to excessive oxalate production, recurrent nephrolithiasis, nephrocalcinosis, and progression to kidney failure with systemic oxalosis in the most severe forms. Until recently, treatment options were limited to conservative measures and double liver/kidney transplantation. The advent of small interfering RNA therapies has revolutionized the field by enabling targeted hepatic enzyme silencing via GalNAc-conjugated delivery involved in oxalate synthesis.