PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry (PKUDOS)

The objective of this study is to evaluate the safety of long-term treatment with Kuvan.

Study Overview

• Status: Completed
• Conditions: Phenylketonuria; Hyperphenylalaninaemia
• Intervention / Treatment: Drug: Kuvan

Detailed Description

The PKUDOS program is a voluntary, multicenter, strictly observational program for patients with PKU who have either received Kuvan therapy, or currently receive Kuvan, or intend to begin receiving Kuvan therapy within 90 days of entering the registry.

• Study Type: Observational
• Enrollment (Actual): 1887

Contacts and Locations

Study Locations

• United States
  • California
    • Los Angeles, California, United States, 90095
      • UCLA
    • Los Angeles, California, United States, 90027
      • Childrens Hospital of Los Angeles
    • Los Angeles, California, United States, 90033
      • LAC and USC Medical Center
    • Orange, California, United States, 92868
      • Children's Hospital of Orange County
    • San Diego, California, United States, 92093
      • University of California, San Diego
    • Stanford, California, United States, 94305
      • Stanford University, Pediatrics
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Children's Hospital, University of Colorado School of Medicine
  • District of Columbia
    • Washington, District of Columbia, United States, 20010
      • Children's National Medical Center
  • Florida
    • Gainesville, Florida, United States, 32611
      • University of Florida
    • Miami, Florida, United States, 33136
      • University of Miami, Miller School of Medicine, Department of Human Genetics
    • Tampa, Florida, United States, 33606
      • University of South Florida
    • Tampa, Florida, United States, 33607
      • Tampa Children's Hospital, St. Joseph's Pediatric Endocrine Associates
  • Georgia
    • Decatur, Georgia, United States, 30033
      • Emory University
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Ann and Robert H. Lurie Children's Hospital of Chicago
  • Indiana
    • Indianapolis, Indiana, United States, 46202
      • Indiana University School of Medicine
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • University of Iowa
  • Kansas
    • Wichita, Kansas, United States, 67208
      • Wesley Pediatric Faculty Clinic
  • Kentucky
    • Lexington, Kentucky, United States, 40536
      • University of Kentucky
    • Louisville, Kentucky, United States, 40202
      • Kosair Charities Pediatric Clinical Research Unit
  • Louisiana
    • New Orleans, Louisiana, United States, 70112
      • Tulane University Medical School
  • Maryland
    • Baltimore, Maryland, United States, 21287
      • Johns Hopkins University School of Medicine
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Children's Hosptial of Boston
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • University of Minnesota
  • Missouri
    • Columbia, Missouri, United States, 65212
      • University of Missouri Health Care
    • Saint Louis, Missouri, United States, 63110
      • St. Louis Children's Hospital
  • Nebraska
    • Omaha, Nebraska, United States, 68182
      • University of Nebraska
  • New Jersey
    • Morristown, New Jersey, United States, 07960
      • AHS Hospital Corp
  • New York
    • Albany, New York, United States, 12208
      • Albany Medical Center
    • Rochester, New York, United States, 14642
      • University of Rochester Medical Center
    • Valhalla, New York, United States, 10595
      • Westchester Medical Center
  • North Carolina
    • Chapel Hill, North Carolina, United States, 27599
      • University of North Carolina
  • Ohio
    • Akron, Ohio, United States, 44308
      • Akron Children's Hospital
    • Columbus, Ohio, United States, 43205
      • Nationwide Children's Hospital
  • Oklahoma
    • Oklahoma City, Oklahoma, United States, 73104
      • University of Oklahoma
  • Oregon
    • Portland, Oregon, United States, 97239
      • Oregon Health and Science University
  • Pennsylvania
    • Hershey, Pennsylvania, United States, 17033
      • Penn State, Milton S. Hershey Medical Center
    • Philadelphia, Pennsylvania, United States, 19104
      • Children's Hospital of Philadelphia
    • Philadelphia, Pennsylvania, United States, 19134
      • St. Christophers Hospital for Children
    • Pittsburgh, Pennsylvania, United States, 15224
      • Children's Hospital of Pittsburgh
  • South Carolina
    • Greenwood, South Carolina, United States, 29646
      • Greenwood Genetic Center
  • South Dakota
    • Sioux Falls, South Dakota, United States, 57117
      • Sanford Children's Specialty Clinic
  • Utah
    • Salt Lake City, Utah, United States, 84132
      • University of Utah
  • Virginia
    • Norfolk, Virginia, United States, 23507
      • Children's Hospital of The King's Daughters
  • West Virginia
    • Morgantown, West Virginia, United States, 26506
      • West Virginia Genetics Center, Department of Pediatrics
  • Wisconsin
    • Milwaukee, Wisconsin, United States, 53226
      • Children's Hospital of Wisconsin

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Diagnosis of Phenylketonuria with hyperphenylalaninemia

Description

PKUDOS Registry

Inclusion Criteria:

• Patient has confirmed diagnosis of PKU with hyperphenylalaninemia documented by a Phenylalanine level of greater than or equal to 360 umol/L (6 mg/dL)
• Patient has previously received Kuvan
• Patient is currently receiving Kuvan
• Patient intends to receive Kuvan therapy within 90 days of enrollment into the registry
• The Patient is being followed at a PKUDOS participating center
• Willing and able to provide written authorization or, if under the age of 18 years, provide written assent (if required) and written patient authorization by a parent or legal guardian
• Willing to provide personal health information

Exclusion Criteria:

• Patients are not eligible to participate in PKUDOS if they are participating in a BioMarin-sponsored clinical study of Kuvan
• Patients not previously treated with Kuvan and patients that are unwilling to begin Kuvan therapy within 90 days of entry into the registry

PKU MOMS Subregistry

Inclusion Criteria:

• Willing to enroll in (or are already enrolled in) PKUDOS
• Agree to follow the standard of care for pregnant women with PKU in the United States (NIH, 200, NIH Consensus Statement)
• Agree to be followed by a hospital or PKU clinic offering the standard of care for maternal PKU
• Are within 10 weeks of their last menstrual period

Exclusion Criteria:

• Patients who have not adhered to the standard of care for pregnant women with PKU in the United States are not eligible to participate in PKU MOMS

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
1. PKUDOS Registry; Patients with a confirmed diagnosis of Phenylketonuria (PKU) with hyperphenylalaninemia who have either received Kuvan therapy, or currently receive Kuvan therapy, or intend to begin receiving Kuvan therapy within 90 days of entering the registry.
2. PKU MOMS Subregistry; Patients with PKU who are pregnant at enrollment in the registry or who become pregnant while participating in the registry.	Drug: Kuvan; -Recommended post-partum Assessments include: collection of baby's plasma at Birth, 1 Month and 6 months, and collection of mother's plasma and expressed breast milk sample at 1 Month.; Other Names: sapropterin dihydrochloride

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Observational Data Only	Registry data including demographic and baseline characteristics	15 years

Collaborators and Investigators

• Sponsor: BioMarin Pharmaceutical
• Investigators: Study Director: Kristin Lindstrom, MD, BioMarin Pharmaceutical

Study record dates

Study Major Dates

• Study Start: September 1, 2008
• Primary Completion (Actual): January 29, 2021
• Study Completion (Actual): January 29, 2021

Study Registration Dates

• First Submitted: October 21, 2008
• First Submitted That Met QC Criteria: October 22, 2008
• First Posted (Estimate): October 23, 2008

Study Record Updates

• Last Update Posted (Actual): October 12, 2022
• Last Update Submitted That Met QC Criteria: October 11, 2022
• Last Verified: September 1, 2022

More Information

Terms related to this study

• Keywords: Phenylketonuria; PKU; Phenylalanine; Hyperphenylalaninemia
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: PKUDOS-01; PKUDOS Registry (Registry Identifier: PKUDOS)