Actively Recruiting
Phase 3b Study of Sepiapterin Treatment to Preserve Brain Function in Children With Phenylketonuria
Led by PTC Therapeutics · Updated on 2026-07-23
56
Participants Needed
10
Research Sites
N/A
Total Duration
AI-Summary
What this Trial Is About
Researchers are evaluating the long-term effects of sepiapterin on preserving neurocognitive function in children with phenylketonuria PKU, focusing on treatment started in early childhood. This Phase 3b open-label study aims to assess whether sepiapterin can maintain intelligence scores and quality of life over several years in young participants with PKU. The study has two parts an initial open-label sepiapterin-responsiveness test followed by a longer open-label treatment period. Participants will receive sepiapterin orally once daily, with doses adjusted by age and weight, for up to six years. The sepiapterin powder will be mixed with water or apple juice before administration. Throughout the study, children will undergo regular assessments including intelligence quotient IQ testing at baseline, 2 years, and 4 years, as well as quality of life questionnaires and blood phenylalanine level measurements up to six years. Researchers will monitor cognitive function, quality of life, and blood markers associated with PKU, with the study concluding in 2031.
CONDITIONS
Brief Title
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
Research Team
P
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