Rare Genetic Diseases
Enzyme Replacement Therapy for Arginase 1 Deficiency
Arginase 1 Deficiency, sometimes called hyperargininemia, leads to excessively high levels of arginine in the blood. It is due to a rare, hereditary, inborn error of metabolism causing patients to be deficient in the enzyme Arginase 1. This devastating, life-threatening urea cycle disorder presents in early childhood with a range of neurological symptoms significantly affecting the child and, in turn, their family.
Aside from severe dietary protein restriction, there is no treatment that addresses the root cause of the disease to help prevent the progressive spasticity, seizures, impaired growth, intellectual disability, and other serious symptoms of this condition.
We’re testing the ability of our lead product candidate, pegzilarginase, to lower blood arginine levels and address the underlying cause of this devastating disease.