Sephience™ Receives EU Marketing Authorization for PKU Treatment: A Major Leap Forward

Sephience™ Granted Marketing Authorization by the European Commission

On June 23, 2025, PTC Therapeutics, Inc. celebrated a significant milestone with the announcement that its product, Sephience™ (sepiapterin), has received marketing authorization from the European Commission. This approval marks a major step forward in the treatment of phenylketonuria (PKU), a rare inherited metabolic disorder, for individuals of all ages and varying disease severities.

What is PKU?

Phenylketonuria, commonly abbreviated as PKU, is a genetic disorder caused by a defect in the gene responsible for producing the enzyme necessary to metabolize phenylalanine (Phe), an amino acid found in many common foods. Without proper management, elevated levels of Phe can lead to severe neurological impairments, including intellectual disabilities, developmental delays, and emotional issues. Approximately 58,000 people worldwide live with this condition.

The Significance of Sephience™

The broad label granted for Sephience™, which encompasses all age groups and severity levels of PKU, is a promising indication of the drug's potential to improve the lives of both children and adults suffering from this disorder. Dr. Matthew B. Klein, CEO of PTC Therapeutics, voiced optimism regarding the broad application of Sephience™, stating that this therapy could redefine the standard of care for PKU patients.

Sephience™ works as a natural precursor to the enzyme co-factor BH4, which is crucial for the functioning of phenylalanine hydroxylase (PAH). The drug has been clinically proven to enhance the activity of the defective PAH enzyme in PKU patients. Notably, the results from the Phase 3 APHENITY trial highlighted its efficacy, showing a statistically significant reduction in blood Phe levels and allowing participants to enjoy a more liberalized diet.

Launch and Future Prospects

The marketing authorization is applicable across all 27 EU member states and also includes Iceland, Norway, and Liechtenstein. PTC plans to initiate the product's launch in Germany in early July 2025. Following the EU approval, the company is also progressing towards a New Drug Application (NDA) for Sephience™ in the United States, slated for FDA review by July 29, 2025. Applications in countries like Japan and Brazil are also underway.

Conclusion

The approval of Sephience™ not only offers hope to those affected by PKU but also embodies PTC Therapeutics' dedication to addressing rare disorders with innovative solutions. As Sephience™ enters the market, it stands as a testament to the possibilities of modern medicine in transforming lives and improving treatment outcomes for rare genetic conditions. With a global push towards its commercialization, the journey of Sephience™ is one to watch closely in the coming months and years.

For more information about Sephience™ and the ongoing efforts of PTC Therapeutics, visit the PTC website.