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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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04452513
Recruitment Status : Recruiting
First Posted : June 30, 2020
Last Update Posted : November 9, 2020
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 : December 2021
Estimated Study Completion Date : December 2021

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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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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 identifier (NCT number): NCT04452513

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United States, Colorado
Children's Hosptial of Colorado Recruiting
Aurora, Colorado, United States, 80045
Contact: Casey Burns    720-777-8513   
United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32605
Contact: Michelle Hunter    352-265-0111   
University of South Florida Recruiting
Tampa, Florida, United States, 33606
Contact: Maria Gomez    813-259-8750   
United States, Georgia
Emory University Hospital Recruiting
Atlanta, Georgia, United States, 30322
Contact: Eleanor Botha    404-778-8517   
United States, Illinois
Ann & Robert H. Lurie Chilren's Hospital Recruiting
Chicago, Illinois, United States, 60611
Contact: Rachel Katz    312-227-6764   
United States, Indiana
Riley Hospital for Children Recruiting
Indianapolis, Indiana, United States, 46202
Contact: Susan Romie    317-278-6650   
United States, Kentucky
University of Kentucky Recruiting
Lexington, Kentucky, United States, 40536-0293
Contact: Bibi Broome    859-218-1079   
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Vera Anastasoaie    617-355-7346   
United States, New Jersey
Morristown Medical Center Recruiting
Morristown, New Jersey, United States, 07960
Contact: Christina Flora    973-971-7634   
United States, Oregon
Oregon Health & Science University Recruiting
Portland, Oregon, United States, 97239
Contact: Sondra Bloxam    503-494-4290   
United States, Pennsylvania
UPMC Children's Hospital of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Jessica Lindenberger    412-692-7530   
Clinic for Special Children Recruiting
Strasburg, Pennsylvania, United States, 17579
Contact: Karlla Brigatti    717-687-9407   
United States, Texas
University of Texas Health Science Center at Houston Recruiting
Houston, Texas, United States, 77030
Contact: Heather Saavedra    713-500-7098   
United States, Wisconsin
Medical College of Wisconsin Recruiting
Wauwatosa, Wisconsin, United States, 53226
Contact: Cassie Bird    414-266-3072   
Sponsors and Collaborators
BioMarin Pharmaceutical
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Responsible Party: BioMarin Pharmaceutical Identifier: NCT04452513    
Other Study ID Numbers: 307-902
First Posted: June 30, 2020    Key Record Dates
Last Update Posted: November 9, 2020
Last Verified: November 2020

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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