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Phenylketonuria

Phenylketonuria, or PKU, is an autosomal recessive inborn error of phenylalanine metabolism resulting in a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH).

 

 

In classic PKU, there is less than 1% enzyme activity leading to an accumulation of phenylalanine (Phe). Untreated, it is characterised by irreversible intellectual disability, microcephaly, seizures, and other motor, neurocognitive and developmental deficits.

The prevalence of the disease is between 1 in 10,000 and 1 in 20,000 live births depending on geographic location. Evox is developing a PAH-loaded exosome drug product. An exosome loaded protein-based therapy is expected to be more effective than current therapeutic options. In addition, Evox is also evaluating approaches for delivering long-acting nucleic acid payload as part of our CORRECT pipeline.

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