PTC923-PKU-401
Research type
Research Study
Full title
A Phase 3b Open-Label Study of Long-Term Neurocognitive Outcomes in Children With Phenylketonuria Treated With Sepiapterin (EPIPHENY)
IRAS ID
1010934
Contact name
Kim Ingalis
Contact email
Sponsor organisation
PTC Therapeutics, Inc.
Clinicaltrials.gov Identifier
Research summary
This study, named PTC923-PKU-401, aims to explore the benefits of a drug called sepiapterin in young children with phenylketonuria (PKU). PKU is a genetic disorder where the body cannot break down an amino acid called phenylalanine (Phe), leading to harmful levels in the body. High levels of Phe can damage the brain and affect cognitive functions.
The study will include children from birth to under 12 years old, with a maximum of 15 children under 30 months old. It will be conducted in three parts:
Screening: Children will be screened to determine they meet eligibility criteria for the study.
Part 1: Children will be tested to see if they respond to sepiapterin, a positive response is defined as a 30% or more reduction in blood Phe levels from baseline.
Part 2: Children who respond positively in Part 1 will be enrolled in a long-term study where they will receive daily oral doses of sepiapterin for up to 6 years.The total duration of the study is expected to be around 7 years, including a 1-year enrollment period and up to 6 years of treatment.
Sepiapterin has already shown promising results in previous studies involving both adults and children with PKU. These studies have demonstrated that sepiapterin is effective and safe, with minimal side effects. The drug offers an alternative to the strict Phe-restricted diet that is currently the primary treatment for PKU.
The main goal of this study is to determine if early treatment with sepiapterin can help preserve neurocognitive functions in children with PKU. This is important because, despite early dietary treatment, many children with PKU still experience suboptimal cognitive outcomes. Understanding the impact of sepiapterin on cognitive development could lead to better long-term treatment strategies for PKU.
REC name
London - Hampstead Research Ethics Committee
REC reference
25/LO/0289
Date of REC Opinion
30 May 2025
REC opinion
Further Information Favourable Opinion