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A Prospective Clinical Study of Phenylketonuria (PKU)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT04452513
Recruitment Status : Active, not recruiting
First Posted : June 30, 2020
Last Update Posted : January 31, 2022
Information provided by (Responsible Party):
BioMarin Pharmaceutical

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.

Condition or disease

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Study Type : Observational
Estimated Enrollment : 90 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective Clinical Study of Phenylketonuria (PKU)
Actual Study Start Date : October 11, 2019
Estimated Primary Completion Date : July 2023
Estimated Study Completion Date : July 2023

Primary Outcome Measures :
  1. Change in Plasma Phe Levels [ Time Frame: Baseline, week 92 ]

Secondary Outcome Measures :
  1. Change in dietary protein intake from medical and intact food [ Time Frame: Baseline, week 92 ]

Information from the National Library of Medicine

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Ages Eligible for Study:   14 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   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:

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04452513

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United States, Colorado
Children's Hosptial of Colorado
Aurora, Colorado, United States, 80045
United States, Florida
University of Florida
Gainesville, Florida, United States, 32605
University of South Florida
Tampa, Florida, United States, 33606
United States, Georgia
Emory University Hospital
Atlanta, Georgia, United States, 30322
United States, Illinois
Ann & Robert H. Lurie Chilren's Hospital
Chicago, Illinois, United States, 60611
United States, Indiana
Riley Hospital for Children
Indianapolis, Indiana, United States, 46202
United States, Kentucky
University of Kentucky
Lexington, Kentucky, United States, 40536-0293
United States, Massachusetts
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
United States, New Jersey
Morristown Medical Center
Morristown, New Jersey, United States, 07960
United States, Oregon
Oregon Health & Science University
Portland, Oregon, United States, 97239
United States, Pennsylvania
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Clinic for Special Children
Strasburg, Pennsylvania, United States, 17579
United States, Texas
University of Texas Health Science Center at Houston
Houston, Texas, United States, 77030
United States, Wisconsin
Medical College of Wisconsin
Wauwatosa, Wisconsin, United States, 53226
Sponsors and Collaborators
BioMarin Pharmaceutical
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Responsible Party: BioMarin Pharmaceutical
ClinicalTrials.gov Identifier: NCT04452513    
Other Study ID Numbers: 307-902
First Posted: June 30, 2020    Key Record Dates
Last Update Posted: January 31, 2022
Last Verified: January 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by BioMarin Pharmaceutical:
PAH Deficiency
Additional relevant MeSH terms:
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Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases