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CompletedNCT04452513Updated Mar 14, 2023

A Prospective Clinical Study of Phenylketonuria (PKU)

An observational study in Phenylketonurias, sponsored by BioMarin Pharmaceutical. Completed at 14 sites in United States. Open to participants aged 14 Years and older. Per ClinicalTrials.gov, last updated 2023-03-14.

Sponsored by BioMarin Pharmaceutical · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
32
Ages
14 Years and older
Sex
All
01

Study 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.

02

Conditions studied

  • Phenylketonurias

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Keywords

  • PKU
  • Phenylketonuria
  • PAH Deficiency
03

In context

Phenylketonurias

183 studies on the registry are indexed under Phenylketonurias; 38 are open to participants now.

This study's enrollment of 32 is below the median of 40 across 60 observational studies indexed under Phenylketonurias.

Browse Phenylketonurias studies →

Lead sponsor

BioMarin Pharmaceutical is the lead sponsor of 110 studies on the registry; 13 are open to participants now.

Of its 17 completed or terminated interventional studies of FDA-regulated products, 12 (71%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
14 Years and older
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

PKU Patients 14 years or older with uncontrolled plasma Phe levels

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

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
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
32 participants (actual)
Patient registry
No
06

What researchers measure

Primary outcomes

  1. Change in Plasma Phe Levels

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

Secondary outcomes

  1. Change in dietary protein intake from medical and intact food

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

07

Study locations

14 sites
  • Children's Hosptial of Colorado
    Aurora, Colorado 80045, United States
  • University of Florida
    Gainesville, Florida 32605, United States
  • University of South Florida
    Tampa, Florida 33606, United States
  • Emory University Hospital
    Atlanta, Georgia 30322, United States
  • Ann & Robert H. Lurie Chilren's Hospital
    Chicago, Illinois 60611, United States
  • Riley Hospital for Children
    Indianapolis, Indiana 46202, United States
  • University of Kentucky
    Lexington, Kentucky 40536-0293, United States
  • Boston Children's Hospital
    Boston, Massachusetts 02115, United States
  • Morristown Medical Center
    Morristown, New Jersey 07960, United States
  • Oregon Health & Science University
    Portland, Oregon 97239, United States
  • UPMC Children's Hospital of Pittsburgh
    Pittsburgh, Pennsylvania 15224, United States
  • Clinic for Special Children
    Strasburg, Pennsylvania 17579, United States
  • University of Texas Health Science Center at Houston
    Houston, Texas 77030, United States
  • Medical College of Wisconsin
    Wauwatosa, Wisconsin 53226, United States
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Mar 14, 2023, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT04452513
Lead sponsor
BioMarin Pharmaceutical
Responsible party
Sponsor
First posted
Jun 30, 2020
Start date
Oct 11, 2019
Primary completion
Jun 2, 2022
Completion
Jun 2, 2022
Last update
Mar 14, 2023

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Sep 2022. You cannot join it, but the record below documents what was studied.

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