Lumasiran is in clinical development for the treatment of primary hyperoxaluria type I (PH1) in paediatric patients up to 5 years old. PH1 is a very rare disease caused by certain genetic mutations, in which excess production of a substance called oxalate results in the deposition of oxalate crystals in the kidneys and urinary tract. This leads to stone formation and kidney failure with significant morbidity and mortality. Treatment options for PH1 include vitamin B6 which is known to reduce the body’s production of oxalate, dietary recommendations to prevent kidney stones and combined liver-kidney transplantation before or after development of end-stage kidney failure.
Lumasiran, which is administered as a subcutaneous injection, is designed to reduce the levels of an enzyme called glycolate oxidase produced by the liver. Oxalate production is therefore inhibited. By reducing oxalate production, lumasiran has the potential to prevent the actual disease process that develops in PH1. If licensed, lumasiran may provide the first pharmacological treatment option for paediatric patients with PH1 who do not have any approved treatment.