A Prospective Clinical Study of Phenylketonuria (PKU)
Purpose
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.
Condition
- Phenylketonurias
Eligibility
- Eligible Ages
- Over 14 Years
- Eligible Genders
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- 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
Exclusion Criteria
- 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
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
More Details
- Status
- Completed
- Sponsor
- BioMarin Pharmaceutical