Home | Metabolism | Phenylketonuria (PKU) | Publications | Publication: Exploratory study of the effect of 1 week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers

Publication: Exploratory study of the effect of 1 week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers

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)

Results from a Phase 1 exploratory study are presented in this publication. Concentrations of molecules involved in neurometabolic pathways were recorded at baseline and day 7 in 8 healthy subjects who were administered oral CNSA-001 (n=6) or placebo (n=2) over 7 days
Levels of metabolites of interest measured in cerebrospinal fluid and plasma in this study – BH₄, BH₂, homovanillic acid, and 5-hydroxyindoleacetic acid (5-HIAA) – are presented

▼ 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

Smith N, Longo N, Levert K, et al. Mol Genet Metab Rep. 2019;21:100500

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MED-ALL-PKU-2100026 | October 2025

Publication: Exploratory study of the effect of 1 week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers

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