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 are testing the ability of our lead product candidate, pegzilarginase, to lower blood arginine levels and address the underlying cause of this devastating disease.
Cystathionine beta synthase (CBS) deficiency, also known as Classical Homocystinuria, is a serious metabolic disorder characterized by elevated plasma homocysteine levels, leading to a wide range of life-altering complications and reduced life expectancy. Homocysteine accumulation plays a key role in multiple progressive and serious disease-related complications, including thromboembolic vascular events, skeletal abnormalities (including severe osteoporosis), developmental delay, intellectual disability, lens dislocation and severe near sightedness.
There are currently limited treatment options for Homocystinuria. Disease management strategies – dietary protein restriction with amino acid replacement either alone or with vitamin B6, and betaine supplementation – are challenging, have poor adherence and many patients are unable to achieve target levels of homocysteine.
We are testing the ability of our investigational therapeutic, ACN00177, to lower homocysteine levels in the blood. A significant reduction of homocysteine levels may halt or slow the progression of the disease and improve outcomes for patients.