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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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Phenylketonuria (PKU)

Publication: Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): Results of an international, phase 3, randomised, double-blind, placebo-controlled trial

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)

Phenylketonuria (PKU)

Publication: PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: A Phase 2 randomized, multi-center, three-period crossover, open-label, active controlled, all-comers study

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)

Phenylketonuria (PKU)

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 agent being investigated for potential treatment of BH₄ deficiencies and phenylketonuria (PKU)

Phenylketonuria (PKU)

Publication: Exploratory study of the effect of 1 week of orally-administered CNSA-001 (sepiapterin) on central nervous system (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 CNS

Year

2019

2024

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Publications

Topic

Therapeutic approaches

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