PTC Therapeutics Receives Positive CHMP Opinion for Sephience™ (sepiapterin) for the Treatment of Children and Adults Living with Phenylketonuria (PKU)

Core Viewpoint - PTC Therapeutics has received a positive opinion from the CHMP of the EMA for the marketing authorization of Sephience™ (sepiapterin) to treat phenylketonuria (PKU), addressing a significant unmet medical need in Europe [1][2]. Company Overview - PTC Therapeutics is a global biopharmaceutical company focused on developing and commercializing medicines for rare disorders, with a robust pipeline of transformative therapies [7]. Product Information - Sephience is an oral formulation of synthetic sepiapterin that acts through a dual mechanism to enhance the activity of the phenylalanine hydroxylase (PAH) enzyme, effectively reducing blood phenylalanine levels [5]. - The product is designed to cater to a broad range of PKU patients, including those with severe disease subtypes [2][5]. Regulatory Developments - The European Commission is expected to ratify the marketing authorization for Sephience in approximately two months, which will apply to all 27 EU member states, as well as Iceland, Norway, and Liechtenstein [3]. - The New Drug Application (NDA) for sepiapterin is currently under review by the U.S. FDA, with a target action date of July 29, 2025 [4]. Market Launch Plans - PTC is preparing for the European launch of Sephience, with initial focus on Germany and other key markets where named patient access will be available immediately following the positive opinion [2][8]. Disease Context - Phenylketonuria (PKU) is a rare inherited metabolic disorder affecting approximately 58,000 people globally, characterized by the inability to break down phenylalanine, leading to severe neurological damage if untreated [6].