In short
Clinical trials are investigating Sepiapterin in children with phenylketonuria (PKU). These studies aim to evaluate long-term benefit, especially on brain and thinking skills, as well as overall treatment effect. The main trial listed here is a Phase 3 study in children and young people with PKU.
Key points
- Clinical trials of Sepiapterin are studying children and young people with phenylketonuria (PKU). The main listed study is a Phase 3 trial with 115 planned participants. Researchers want to see whether early treatment can help preserve brain and thinking skills over a 2-year period. The main outcome is change in full-scale intelligence quotient, or FSIQ. The trial includes age-based testing with WPPSI-IV for younger children and WISC-V for older children and teens.
Trial overview
The available trial is a study of Sepiapterin in participants with phenylketonuria (PKU), a genetic condition that affects how the body processes phenylalanine. The study is called EPIPHENY and is designed to evaluate long-term efficacy, with a focus on preserving neurocognitive function when treatment begins in early childhood.
Who is being studied
This trial is for children and young people with PKU. The age range in the main outcome measure shows two groups: participants from 30 months to under 6 years of age, and participants from 6 years to 16 years of age. This means the study is focused on early treatment in childhood and follows children as they grow.
Treatment and study design
The study is an interventional trial, which means researchers assign a treatment and then measure the results. It is a Phase 3 study, so it is a later-stage trial meant to test how well the treatment works in a larger group of participants.
The interventions listed are Sepiapterin given as Sephience oral powder in sachets, with two strengths named in the trial record: 250 mg and 1,000 mg. The trial record also states a dose of 60 mg/kg by mouth for both listed forms.
What is being measured
The main outcome is the mean change in full-scale intelligence quotient (FSIQ) over 2 years. FSIQ is a score that reflects overall thinking ability, including learning and problem-solving skills.
The study uses age-appropriate tests to measure this outcome: the WPPSI-IV for participants aged 30 months to under 6 years, and the WISC-V for participants aged 6 years to 16 years. These tests help researchers compare thinking skills over time in children of different ages.
The brief study summary says the goal is to evaluate long-term efficacy of Sepiapterin on preserving neurocognitive functioning in children with PKU when treatment starts early. Neurocognitive functioning means brain-related skills such as attention, memory, learning, and reasoning.
Study status and size
The trial status is listed as Authorised, which means it has been approved to proceed. The planned enrollment is 115 participants. This size suggests a focused but meaningful study in a specific PKU population.