PTC Therapeutics(US:PTCT) Prnewswireยท2025-03-20 12:00Core Insights - The Phase 3 APHENITY trial data indicates that 97% of participants were able to increase their dietary phenylalanine (Phe) intake, with a mean increase of 126% [1][6] - Sepiapterin treatment shows significant benefits for all phenylketonuria (PKU) patients, including those with severe forms of the disease and non-BH4 responsive genotypes [2][3] - The genetic variant analysis revealed that over 70% of subjects had a Genotype-Phenotype Value (GPV) consistent with classical PKU [6] Company Overview - PTC Therapeutics, Inc. is a biopharmaceutical company focused on developing and commercializing medicines for rare disorders, aiming to provide access to transformative treatments [5] - The company emphasizes its global commercial infrastructure to maximize value for patients and stakeholders [5] Product Information - Sepiapterin, an oral formulation, acts by increasing the activity of the phenylalanine hydroxylase (PAH) enzyme through dual mechanisms: as a precursor to tetrahydrobiopterin (BH4) and as a pharmacological chaperone [3] - The treatment effectively reduces blood Phe levels and has the potential to benefit a broad range of PKU patients [3] Disease Context - Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by a defect in the gene responsible for producing the enzyme that breaks down phenylalanine, leading to severe disabilities if untreated [4] - Approximately 58,000 individuals are estimated to have PKU globally [4]