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Investigational Enzyme Replacement Therapy Shows Promise for Arginase 1 Deficiency

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Arginase 1 deficiency (ARG1-D) is a rare inherited metabolic urea cycle disorder characterized by accumulation of arginine and ammonia in the blood. It typically presents in early childhood with symptoms such as seizures, spasticity, ataxia, growth and developmental delays, and regression. The investigational drug pegzilarginase is being developed as an enzyme replacement therapy (ERT) to reduce arginine levels. Preliminary data from a phase 1/2 study were presented at SSIEM 2018 for 3 patients treated with intravenous pegzilarginase for 8 weeks. Treatment reduced plasma arginine levels and guanidino compounds and improved neuromotor function. The drug was well tolerated, and a pivotal clinical trial is being planned.

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Zori RT, Diaz GA, Merritt II JL, et al. Improvements in arginase 1 deficiency-related disease manifestations following plasma arginine reduction with pegzilarginase. Presented at: SSIEM 2018 Annual Symposium; September 4-7, 2018; Athens, Greece. Poster P-164.

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