PKU Treatment with Radiation and Liver Cell Transplant – Phase I/II

Hepatocyte Transplantation for Phenylketonuria

Protocol Description

The purpose of this research is to determine whether partial irradiation of the liver and liver cell transplantation can reduce the need for dietary and medical management of phenylketonuria (PKU) by normalizing phenylalanine (Phe) levels in the body. In people with PKU, an enzyme that does not work properly causes Phe, a protein, to accumulate, which can lead to intellectual disability and central nervous system problems.

Study Level: Phase I/II

Eligibility Criteria

Subject to exclusion criteria, candidates must have a diagnosis of PKU, which is not well controlled with standard therapy, as supported by 2 consecutive test results in the 6 prior months showing Phe greater than 12 mg/dL.
Males and Females: Ages 14-55 years


This study requires initial screening tests through the Pediatric Clinical and Translational Research Center at UPMC Children’s Hospital of Pittsburgh that may take up to 5 days to complete. Qualified candidates will then need to wait until donor liver cells become available for transplant. Radiation and transplant are done in the hospital setting over 2 days. Transplant is done via infusions through a catheter. Multiple transplants may be involved to receive sufficient liver cells. After the final cell transplant, participants will be followed for 2 years.
Visits: Approximately 14, plus hospitalization(s) for transplant procedures.
Duration: Dependent on availability of transplant cells. 

Status: Open to Enrollment

Source(s) of Support

National Institutes of Health

Primary Investigator

Ira Fox, MD

Contact Information

For more information about the study or enrollment, please contact: 
Jessica Lindenberger, MSN, CRNP, FNP-C