NCT03519711

A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia

A Phase 1/2, Open-Label, Randomized Parallel Arm, Intra-patient Dose Escalation Study to Evaluate the Safety, Pharmacokinetics and Preliminary Efficacy of CNSA-001(Sepiapterin) in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia

• Status: Completed
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 8 (actual)
• Sponsor: PTC Therapeutics · Industry
• Sex: All
• Age: 12 Months
• Healthy volunteers: Not accepted

Summary

This study has been designed to demonstrate the safety, pharmacokinetics (PK) and preliminary efficacy of PTC923 (CNSA-001) in reducing blood phenylalanine concentrations in participants with hyperphenylalaninemia due to primary BH4 deficiency (PBD).

Detailed description

BH4 is an essential cofactor for phenylalanine hydroxylase, tyrosine hydroxylase, tryptophan hydroxylase, fatty acid glycerylether oxygenase, and nitric oxide (NO) synthase. The PBD is caused by deficiency of GTP cyclohydrolase I (GTP-CH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), or sepiapterin reductase (SR) that impairs the biosynthesis of BH4 or by defects in BH4 recycling (pterin-4a-carbinolamine dehydratase \[PCD\] or dihydropteridine reductase \[DHPR\] deficiency). Participants will be randomized into one of 2 cohorts, with each cohort assessing 2 dose levels of PTC923 via intra-participant escalation.

Conditions

• BH4 Deficiency
• Hyperphenylalaninemia

Interventions

Type	Name	Description
DRUG	PTC923	PTC923 will be administered per dose and schedule specified in arm description.

Timeline

• Start date: 2019-01-03
• Primary completion: 2020-10-02
• Completion: 2020-10-02
• First posted: 2018-05-09
• Last updated: 2023-11-14
• Results posted: 2023-11-14

Locations

4 sites across 1 country: United States

Regulatory

• FDA-regulated drug study