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Clinical Trial 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).


Clinical Trial 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. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT03519711
Study type Interventional
Source PTC Therapeutics
Contact
Status Completed
Phase Phase 1/Phase 2
Start date January 3, 2019
Completion date October 2, 2020

See also
  Status Clinical Trial Phase
Completed NCT02212288 - Antioxidant Signature in Adult Patients With Phenylketonuria Phase 4
Completed NCT01869972 - Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia N/A
Completed NCT01619722 - Study of a National Cohort of Adult Patients With Phenylketonuria
Terminated NCT01541397 - Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy N/A