Innovative therapeutics


Pegvaliase (BMN 165) for PKU

Pegvaliase (Pegylated recombinant phenylalanine ammonia lyase or ‘PEG-PAL’) is an investigational enzyme substitution therapy for the treatment of phenylketonuria (PKU).

Phenylketonuria (PKU) is a genetic condition requiring lifelong management. In someone with PKU, the phenylalanine hydroxylase (PAH) enzyme is either missing or not working properly, which can cause a buildup of phenylalanine (Phe) in the blood. Phenylalanine, or “Phe,” is an amino acid found in many foods, especially those high in protein, such as chicken, meat, eggs, dairy, nuts, grains, and legumes. High or unstable blood Phe levels can cause a variety of symptoms, including mental, behavioral, neurological, and physical problems. High and/or unstable blood Phe levels can cause problems in the way people with PKU think, feel, and act.

PKU is diagnosed at birth. Nearly all developed countries test for PKU as part of their newborn screening program. An estimated 50,000 people under 40 years of age in developed countries are living with the disease.

Pegvaliase is an investigational study drug that substitutes the PAH enzyme in PKU by breaking down Phe. It is being developed as a potential treatment for adults whose blood Phe levels are not adequately controlled or who have trouble controlling and maintaining their Phe levels.

Pegvaliase is currently being studied in ongoing Phase 3 clinical trials to evaluate the safety, tolerability, and efficacy for people with PKU who have not received the treatment in the past as well as to evaluate long-term treatment. The treatment has designated Orphan Drug status in the United States and European Union.

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Lysosomal Storage Disorders (MPS I, MPS IVA, MPS VI, CLN2 disease) PKU, LEMS



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