PTC(PTC) Prnewswire·2024-10-14 20:30Core Insights - PTC Therapeutics, Inc. announced that the FDA has set a target regulatory action date of July 29, 2025, for the review of the New Drug Application (NDA) for sepiapterin, aimed at treating phenylketonuria (PKU) in both pediatric and adult patients [1][3] - The results of the Phase 3 APHENITY trial have been published in The Lancet, highlighting the promising data regarding sepiapterin's potential to address significant unmet medical needs for PKU patients [2][3] Drug Development and Mechanism - Sepiapterin (formerly PTC923) is an oral formulation that acts through a dual mechanism: it serves as a precursor to tetrahydrobiopterin (BH4), enhancing the activity of the phenylalanine hydroxylase (PAH) enzyme, and it also functions as a pharmacological chaperone to correct PAH misfolding [4] - The NDA for sepiapterin includes data from the Phase 3 APHENITY trial and ongoing open-label extension studies, demonstrating that approximately 60% of subjects can achieve protein intake above the recommended daily allowance while maintaining phenylalanine levels below 360 μmol/L [3][4] Disease Overview - 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 [5] - There are an estimated 58,000 individuals with PKU globally, and early diagnosis is typically conducted through newborn screening programs [5] Company Background - PTC Therapeutics is a global biopharmaceutical company focused on developing and commercializing differentiated medicines for rare disorders, aiming to provide access to effective treatments for patients with limited options [6] - The company's strategy emphasizes leveraging scientific expertise and a global commercial infrastructure to maximize value for stakeholders [6]