A Prospective Clinical Study of Phenylketonuria (PKU)


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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 2021

Clinical Trial Outcome Measures

Primary Measures

  • Change in Plasma Phe Levels
    • Time Frame: Baseline, week 92

Secondary Measures

  • Change in dietary protein intake from medical and intact food
    • Time Frame: Baseline, week 92

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: 14 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • BioMarin Pharmaceutical
  • Provider of Information About this Clinical Study
    • Sponsor

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