Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study

Genetics in Medicine 2026 Open access

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Authors: Francjan van Spronsen, Heidi Peters, Lali Margvelashvili, Dodo Agladze, Ida Vanessa D. Schwartz, Maria Giżewska, Takashi Hamazaki, Laura Guilder, Anita MacDonald, Suresh Vijay, Anita Inwood, Maria Avanise Yumi Minami
+37 more Olivia Fjellbirkeland, Allan Lund, Melissa Lah, Janet A. Thomas, Nicola Longo, Ertuğrul Kiykim, Mika Ishige, Alberto Burlina, Amaya Bélanger-Quintana, Frank Rutsch, Thomas Opladen, Neslihan Önenli Mungan, Fatih Ezgü, Drago Bratkovic, Anupam Chakrapani, Tetsuya Ito, Arlindo Guimas, Roberto Zori, Michel Tchan, Stephanie Sacharow, Anabela Oliveira, Patrícia Janeiro, Ixiu-Cabrales Guerra, Jaume Campistol Plana, Yılmaz Yıldız, Ebru Canda, Aneal Khan, Jerry Vockley, Margo Sheck Breilyn, Filippo Manti, Alex Larkin, Catalina Hughes, Enwu Liu, Lan Gao, Kimberly Ingalls, Neil Smith, Ania C. Muntau
DOI: 10.1016/j.gim.2026.101683
Cited by: 5
References: 30

Abstract

PURPOSE: To report interim results from the ongoing, open-label, phase 3 APHENITY Extension Study (NCT05166161), evaluating long-term treatment with sepiapterin in patients with phenylketonuria. METHODS: Participants received an age-based dose of oral sepiapterin daily; those with mean blood phenylalanine (Phe) levels

Fields of Study & Subjects

Metabolism and Genetic Disorders Pharmacogenetics and Drug Metabolism Traditional Chinese Medicine Studies

Publication details

Journal / source
Genetics in Medicine
Publisher
Elsevier BV
Volume
28
Issue
4
Pages
101683–101683
Publication date
12 January 2026
Language
EN