Pegzilarginase, an investigational therapy has been launched by Aeglea BioTherapeutics for the treatment of Arginase 1 Deficiency (ARG1-D).
Pegzilarginase is an enhanced human arginase that is intended for use as an enzyme replacement therapy in patients to reduce the elevated blood arginine levels.
Patients are being recruited for a randomized, 3 phase trial currently, which will evaluate the safety and efficacy of pegzilarginase in patients with ARG1-D.
A statistically significant reduction in plasma arginine at 8 weeks was demonstrated from the results of a phase 1/2 trial and sustained lowering of plasma arginine in patients treated with pegzilarignase.
The treatment was generally well-tolerated. Serious adverse events included hypersensitivity and hyperammonemia.
The US FDA has granted its Breakthrough Therapy Designation to expedite the development and review of new therapies to treat serious or life-threatening conditions.
ARG1-D is an autosomal recessive condition resulting from a mutation that leads to a deficiency in the enzyme arginase, which leads to the inability to breakdown the amino acid arginine and remove ammonia from the blood.
It causes arginine and ammonia to accumulate in the blood. The disease usually becomes quite evident around 3 years of age.
Symptoms may include developmental delay, seizures, slower/delayed growth, intellectual disability, and difficulty with balance and coordination, tight muscles, poor appetite, weak muscle tone, irritability, trouble regulating body temperature, vomiting, breathing trouble, small head size, and hyperactivity.
It is a rare debilitating disease that can lead to severe progressive neurological abnormalities and early mortality.
