Published in Genetics in Medicine, this review paper explores the current and future management and therapeutic strategies for phenylketonuria (PKU) across the globe
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Browse selected scientific articles published in peer-reviewed international and interdisciplinary journals to gain insights into the clinical presentation, and genetic and molecular basis of phenylketonuria (PKU)
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Published in The Lancet 2024, this research article presents findings from APHENITY, a Phase 3 clinical trial evaluating the efficacy and safety of sepiapterin in patients with phenylketonuria (PKU)
Published in Metabolism Clinical and Experimental, this research article presents the real-world efficacy of PTC923, compared with sapropterin, in a Phase 2 study of patients with phenylketonuria (PKU)
This research article in Molecular Genetics and Metabolism Reports, reports results from a Phase 1 clinical study of CNSA-001 (sepiapterin), an oral treatment for BH4 deficiencies and phenylketonuria (PKU).
Published in Molecular Genetics and Metabolism Reports, this research article presents the results of a study investigating the potential effects of CNSA-001 – a preparation of sepiapterin – on neurometabolites in the central nervous system (CNS)
▼ Sepiapterin is subject to additional monitoring. This will allow quick identification of new safety information. Healthcare professionals are asked to report any suspected adverse reactions via the national reporting system. Adverse events should also be reported to PTC Therapeutics at pharmacovigilance@ptcbio.com.
Registration conditions differ internationally; always consult local prescribing information and/or Summary of Product Characteristics before prescribing any products.
MED-ALL-PTC923-2500012 | September 2025
MED-ALL-PKU-2100056 | October 2025