Status:

COMPLETED

A Prospective Clinical Study of Phenylketonuria (PKU)

Lead Sponsor:

BioMarin Pharmaceutical

Conditions:

Phenylketonurias

Eligibility:

All Genders

14+ years

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.

Eligibility Criteria

Inclusion

  • 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

  • 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

Key Trial Info

Start Date :

October 11 2019

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

June 2 2022

Estimated Enrollment :

32 Patients enrolled

Trial Details

Trial ID

NCT04452513

Start Date

October 11 2019

End Date

June 2 2022

Last Update

March 14 2023

Active Locations (14)

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Page 1 of 4 (14 locations)

1

Children's Hosptial of Colorado

Aurora, Colorado, United States, 80045

2

University of Florida

Gainesville, Florida, United States, 32605

3

University of South Florida

Tampa, Florida, United States, 33606

4

Emory University Hospital

Atlanta, Georgia, United States, 30322