Actively Recruiting
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
Led by PTC Therapeutics · Updated on 2026-05-06
56
Participants Needed
8
Research Sites
364 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
The main purpose of this trial is to evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with PKU when treatment is initiated in early childhood.
CONDITIONS
Official Title
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Women of childbearing potential must have a negative pregnancy test at screening and agree to abstinence or use at least one highly effective form of contraception during the study and for 90 days after last dose
- Willing to maintain prescribed daily protein/phenylalanine intake during screening and Part 1
- Participants 1 month or older must have established PKU diagnosis with hyperphenylalaninemia shown by at least 2 blood phenylalanine measurements ≥600 micromoles/L
- At least 1 blood phenylalanine measurement <480 micromoles/L within 1 month before screening
- Two screening blood phenylalanine values between 120 and 480 micromoles/L
- For participants younger than 1 month at consent, newborn screening blood phenylalanine ≥600 micromoles/L
- For children 30 months to under 10 years old, baseline full-scale IQ score ≥80
You will not qualify if you...
- History of allergies or reactions to ingredients of synthetic tetrahydrobiopterin (BH4) or sepiapterin
- Serious neuropsychiatric illness not under medical control or other conditions interfering with study participation or increasing risk
- Treatment with BH4 supplementation (e.g., sapropterin, KUVAN) within 3 months before screening
- Current participation in another investigational drug study or use of investigational agent within 30 days before screening
- Confirmed diagnosis of primary BH4 deficiency due to specific genetic mutations
- Clinically significant laboratory abnormalities
- Past abnormal physical exam or lab findings indicating renal disease, including glomerular filtration rate <60 mL/min/1.73 m²
- Major surgery within 90 days before screening
- Previous treatment with sepiapterin for more than 6 weeks
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 8 locations
1
Indiana University School of Medicine
Indianapolis, Indiana, United States, 46202
Actively Recruiting
2
Women and Children Hospital
North Adelaide, Australia, SA 5006
Actively Recruiting
3
The Royal Children's Hospital
Parkville, Australia, VIC 3052
Actively Recruiting
4
Centre Hospitalier Régional Universitaire (CHRU) de Tours - Hôpital Clocheville
Tours, France, 37044
Actively Recruiting
5
Children's Health Ireland (CHI)
Dublin, Ireland, D01 YC67
Actively Recruiting
6
Pomorski Uniwersytet Medyczny w Szczecinie
Szczecin, Poland, 70-204
Actively Recruiting
7
Instytut Matki i Dziecka
Warsaw, Poland, 01-211
Actively Recruiting
8
Birmingham Women's and Children's NHS Foundation Trust
Birmingham, United Kingdom, B4 6NH
Actively Recruiting
Research Team
P
Patient Advocacy
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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