A Prospective Clinical Study of Phenylketonuria (PKU)
- Conditions
- Phenylketonurias
- Registration Number
- NCT04452513
- Lead Sponsor
- BioMarin Pharmaceutical
- Brief Summary
This is a study for adults and children ≥ 14 years old who have Phenylketonuria (PKU) with uncontrolled plasma Phe levels. No clinical intervention or study drug is provided by BioMarin in this study.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 32
- Male and female subjects with diagnosis of PKU which is a condition characterized by PAH deficiency
- Ability and willingness to maintain dietary protein intake consistent with baseline intake
- Willingness and capable per investigator opinion to comply with study procedures and requirements
- Plasma Phe Levels > 600umol/L
- Clinically significant liver dysfunction or disease
- Prior treatment with gene therapy
- Any condition that, in the opinion of the investigator or Sponsor, would prevent the subject from fully complying with the requirements of the study
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Change in Plasma Phe Levels through study completion, an average of 2 years
- Secondary Outcome Measures
Name Time Method Change in dietary protein intake from medical and intact food through study completion, an average of 2 years
Trial Locations
- Locations (14)
Emory University Hospital
🇺🇸Atlanta, Georgia, United States
Ann & Robert H. Lurie Chilren's Hospital
🇺🇸Chicago, Illinois, United States
University of Kentucky
🇺🇸Lexington, Kentucky, United States
University of Florida
🇺🇸Gainesville, Florida, United States
University of South Florida
🇺🇸Tampa, Florida, United States
Children's Hosptial of Colorado
🇺🇸Aurora, Colorado, United States
Boston Children's Hospital
🇺🇸Boston, Massachusetts, United States
Riley Hospital for Children
🇺🇸Indianapolis, Indiana, United States
Morristown Medical Center
🇺🇸Morristown, New Jersey, United States
Oregon Health & Science University
🇺🇸Portland, Oregon, United States
University of Texas Health Science Center at Houston
🇺🇸Houston, Texas, United States
UPMC Children's Hospital of Pittsburgh
🇺🇸Pittsburgh, Pennsylvania, United States
Clinic for Special Children
🇺🇸Strasburg, Pennsylvania, United States
Medical College of Wisconsin
🇺🇸Wauwatosa, Wisconsin, United States