PTC Therapeutics has announced the FDA approval of SEPHIENCE™ (sepiapterin) for the treatment of Phenylketonuria (PKU) in children and adults as young as one month old. This broad labeling covers hyperphenylalaninemia (HPA) in patients with sepiapterin-responsive PKU. The company views this as a significant milestone, addressing a substantial unmet need within the PKU community. PTC's CEO, Dr. Matthew B. Klein, expressed confidence that SEPHIENCE, backed by strong efficacy and safety data from the Phase 3 APHENITY trial and its long-term extension study, is poised to become the future standard of care for this rare, inherited metabolic disease.

SEPHIENCE, which acts as a natural precursor to the enzymatic co-factor BH4, works to effectively reduce elevated blood phenylalanine (Phe) levels, the core issue in PKU. Untreated or poorly managed, high Phe levels can lead to severe and irreversible neurological damage, including intellectual disability and seizures. This approval is particularly impactful as it provides a new treatment option for a wide range of PKU patients. The National PKU Alliance echoed this sentiment, highlighting the renewed hope and potential for improved quality of life this therapy brings.

Beyond the U.S., SEPHIENCE has already received marketing authorization in the European Economic Area, with approval reviews underway in other countries like Japan and Brazil. Patients and physicians are advised to consult the full prescribing information for SEPHIENCE, which includes important safety details regarding potential risks such as increased bleeding, hypophenylalaninemia, and interactions with certain medications. The company emphasizes that treatment should be managed by physicians experienced in PKU care, with careful monitoring of blood Phe levels and dietary adjustments. PTC Therapeutics is committed to ensuring swift access to this treatment, leveraging their expertise in rare disease therapy launches.