A Prospective Clinical Study of Phenylketonuria (PKU)

BioMarin Pharmaceutical32 enrolled

Overview

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

OBSERVATIONAL

Enrollment

Conditions

Phenylketonurias

Eligibility

Sex: ALLMin age: 14 Years

Medical Language ↔ Plain English

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

Locations (14)

Children's Hosptial of Colorado

Aurora, Colorado, United States

University of Florida

Gainesville, Florida, United States

University of South Florida

Outcomes

Primary Outcomes

Change in Plasma Phe Levels

Time frame: through study completion, an average of 2 years

Secondary Outcomes

Change in dietary protein intake from medical and intact food

Time frame: through study completion, an average of 2 years

Data from ClinicalTrials.gov

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