Human Genetics Growth and Development

(PKU015) A Phase 3b Open-Label Study to Evaluate the Effect of Kuvan on Neurocognitive Function, Maintenance of Blood Phenylalanine Concentrations, Safety, and Population Pharmacokinetics in Young children with Phenylketonuria. (IRB# 30839)

Status: No-Longer-Recruiting



  • Patricia Gordon, MD



There has been evidence indicating severe neuropsychological impacts of elevated Phe concentration in adults and children with PKU. Kuvan could pose an option of treatment for those diagnosed with PKU to hopefully reduce or eliminate neurologic impairment.  

Sub-study 1-Primary: To evaluate the safety of 6 months of treatment with Kuvan in children with PKU who are 0-6 years old. Secondary: To evaluate the efficacy of 6 months of treatment with Kuvan in controlling blood Phe concentration within acceptable ranges in children with PKU who are 0-6 years old. To provide baseline neurocognitive data for all Kuvan-responsive subjects and 6-month Bayley-III data for subjects who are 0-2 years old at enrollment. Sub-study 2-To evaluate the population pharmacokinetics of Kuvan in young children.




  • Diagnosis of PKU for at least 2 blood Phe concentrations taken at least 3 days apart
  • Able to adhere to restricted diet to maintain Phe concentrations levels stable


  • Chronic disease that would interfere with safety of the participant
  • Seizure disorder
  • Oral steroid dependent asthma
  • Insulin-dependent diabetes
  • History of organ transplant


Additional Study Details:

What is expected of me and my child?

Part 1- Subjects enrolled into the study will receive 20mg/Kg Kuvan daily for 4 weeks. Part 2- If improvement of >30% average in blood Phe concentration as the weekly percent change from baseline at weeks 1, 2, 3 and 4 he/she will continue in the study.




  • Penn State Hershey Medical Center, UPC



Heidi Watts, RN, BSN, CCRC



  • Human Genetics Growth and Development