Home | Metabolism | Phenylketonuria (PKU) | Publications | Publication: Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers

Publication: Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers

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).

Results from a randomized, double-blind, dose-ranging, Phase 1 clinical trial of 83 healthy subjects who were administered CNSA-001 or placebo are presented and discussed
The pharmacokinetic profile, including plasma levels of sepiapterin and BH₄ following administration of CNSA-001 is reported here, along with adverse events associated with treatment

▼ 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;126(4):406–412

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MED-ALL-PKU-2100026 | October 2025

Publication: Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers

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