A Study of PTC923 in Participants With Phenylketonuria
Summary
The main purpose of this trial is to evaluate the efficacy of PTC923 in reducing blood phenylalanine (Phe) levels in participants with phenylketonuria as measured by mean change in blood Phe levels from baseline to Weeks 5 and 6 (that is, the average of each respective treatment dose 2-week period of double-blind treatment).
Timeline
- Start
- 2021-09-30
- Primary completion
- 2023-04-03
- Completion
- 2023-05-03
Outcome
Met primary endpoint
registry analysis (other test); Part 2: Sepiapterin vs Part 2: Placebo; p <0.0001; LS Mean Difference -395.87 (95% CI -463.07 to -328.66); Mixed Models Analysis NCT05099640 ↗
registry analysis (other test); Part 2: Sepiapterin vs Part 2: Placebo; p <0.0001; LS Mean Difference -64.22 (95% CI -74.09 to -54.35); Mixed Models Analysis NCT05099640 ↗
release “the primary endpoint was achieved in the APHENITY, Phase 3 registration-directed clinical trial of sepiapterin in adult and pediatric patients with phenylketonuria (PKU).” ptcbio.com ↗
Publications
- Muntau AC, Gallagher S, Lah M, Belanger-Quintana A, Longo N. Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial. J Comp Eff Res. 2026 Jan;15(1):e250116. doi: 10.57264/cer-2025-0116. Epub 2025 Dec 9.
- Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Belanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N; APHENITY study group. 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. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3.
Drugs
| Evaluation | Drug | Modality | Dose | Route |
|---|---|---|---|---|
| Subject | Sepiapterin | Small molecule | 7.5 mg/kg | Oral |
| Subject | Sepiapterin | Small molecule | 15 mg/kg | Oral |
| Subject | Sepiapterin | Small molecule | 30 mg/kg | Oral |
| Subject | Sepiapterin | Small molecule | 60 mg/kg | Oral |