PTC Therapeutics shared new data on March 20, 2025, from the Phase 3 APHENITY trial and its subsequent open-label extension study at the 2025 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting. These results provide further evidence of the meaningful benefits of sepiapterin treatment for phenylketonuria (PKU) patients.
Key data presented showed that 97% of participants in a phenylalanine (Phe) tolerance study were able to increase their dietary Phe intake, with a mean increase of 126%. This highlights sepiapterin's potential to enable significant diet liberalization for PKU patients.
Genetic variant analysis from the Phase 3 APHENITY trial also demonstrated a meaningful effect in classical subjects with non-BH4 responsive genotypes. These findings support sepiapterin's potential to benefit the full spectrum of PKU patients, including those with the most severe forms of the disease.
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