PTC Therapeutics has received the European Commission (EC) marketing authorisation for Sephience (sepiapterin) to treat phenylketonuria (PKU) in both children and adults.
PKU is a rare, inherited metabolic disease affecting the brain, caused by a defect in the gene responsible for creating the enzyme needed to break down phenylalanine (Phe).
If left untreated, Phe can accumulate to harmful levels, leading to severe and irreversible disabilities such as intellectual disability, seizures, and behavioural problems.
Sephience is indicated for treating hyperphenylalaninaemia (HPA) in PKU patients.
The drug acts as a dual pharmacological chaperone to effectively reduce blood Phe levels by activating the defective PAH enzyme and increasing intracellular BH4 concentrations.
The EC approval follows the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) positive opinion Sephience.
PTC Therapeutics CEO Matthew Klein said: “The European approval of Sephience is a great step in our efforts to bring this safe and highly effective therapy to children and adults affected by PKU worldwide.
“The broad label supports that potential for Sephience to address all key PKU patient segments and become the new standard of care.”
The EC marketing authorisation applies to all 27 European Union member states, along with Iceland, Liechtenstein, and Norway.
It covers all ages and severities of the disease, which indicates a significant advancement in PKU treatment options.
The approval is based on the statistically significant findings from the Phase 3 APHENITY clinical trial, which shows a durable treatment effect.
Participants in the trial were also able to liberalise their diets in the long-term extension study, further supporting the drug’s efficacy.
PTC Therapeutics plans to launch Sephience in the European Union (EU), starting with Germany in the first half of July.
The company’s New Drug Application for sepiapterin is on schedule, with the US Food and Drug Administration (FDA) target action date set for 29 July 2025.
Also, regulatory applications are under review in other countries, including Brazil and Japan.
