FDA oks novel enzyme therapy for rare disease phenylketonuria

FDA has given its approval to pegvaliase-pqpz (Palynziq—BioMarin Pharmaceutical) for adults with phenylketonuria (PKU) whose uncontrolled blood phenylalanine (Phe) concentration is over 600 µmol/L on current therapy.

FDA has given its approval to pegvaliase-pqpz (Palynziq—BioMarin Pharmaceutical) for adults with phenylketonuria (PKU) whose uncontrolled blood phenylalanine (Phe) concentration is over 600 µmol/L on current therapy. BioMarin said it is the first approved enzyme substitution therapy to target the underlying cause of PKU by helping the body metabolize Phe. PKU is a rare genetic disease marked by an inability to metabolize Phe, an amino acid found in most foods that contain protein as well as in some artificial sweeteners. The researchers conducted two clinical trials to demonstrate the safety and efficacy of pegvaliase-pqpz. The first was a randomized, open-label trial in patients treated with increasing doses of pegvaliase-pqpz administered by subcutaneous injection to a target dose of either 20 mg or 40 mg once daily. The second was an 8-week, placebo-controlled, randomized withdrawal trial in patients who had previously undergone treatment with pegvaliase-pqpz. FDA said that patients treated with pegvaliase-pqpz achieved statistically significant reductions in blood Phe concentrations from their pretreatment baseline concentrations. The most frequent adverse events included injection site reactions, joint pain, hypersensitivity reactions, and headache, while anaphylaxis was the most serious adverse reaction seen in clinical trials. BioMarin expects the treatment to be available in the United States by late June.