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

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2014 by BioMarin Pharmaceutical
Information provided by (Responsible Party):
BioMarin Pharmaceutical Identifier:
First received: October 21, 2008
Last updated: August 15, 2014
Last verified: August 2014

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

Condition Intervention
Drug: Kuvan

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry

Resource links provided by NLM:

Further study details as provided by BioMarin Pharmaceutical:

Primary Outcome Measures:
  • Observational Data Only [ Time Frame: Periodically ] [ Designated as safety issue: No ]
    Registry data will be analyzed and reported periodically, demographic and baseline characteristics will be summarized.

Estimated Enrollment: 3500
Study Start Date: September 2008
Estimated Study Completion Date: September 2023
Estimated Primary Completion Date: September 2023 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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
  • After the baby is born, follow-up assessments will be requested for six months. If Kuvan is taken by the mother during and/or after pregnancy, blood samples will be requested from the mother and the baby.
  • If the mother is lactating and taking Kuvan, breast milk samples will be requested.
Other Name: sapropterin dihydrochloride

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 intends to begin receiving Kuvan therapy within 90 days of entering the registry.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Diagnosis of Phenylketonuria with hyperphenylalaninemia


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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00778206

Contact: Amy Fowles 484-374-3254

  Hide Study Locations
United States, California
Los Angeles, California, United States
Childrens Hospital of Los Angeles Recruiting
Los Angeles, California, United States, 90027
LAC and USC Medical Center Recruiting
Los Angeles, California, United States, 90033
San Diego, California, United States
Stanford University, Pediatrics Recruiting
Stanford, California, United States, 94305
United States, Colorado
Aurora, Colorado, United States
United States, Connecticut
University of Connecticut Health Partners Recruiting
West Hartford, Connecticut, United States, 06119
United States, District of Columbia
Washington, District of Columbia, United States
United States, Florida
Gainesville, Florida, United States
Jacksonville, Florida, United States
Universtiy of Miami, Miller School of Medicine, Department of Human Genetics Recruiting
Miami, Florida, United States, 33136
Nemours Childrens Clinic - Orlando Recruiting
Orlando, Florida, United States, 32806
Tampa, Florida, United States
United States, Georgia
Decatur, Georgia, United States
United States, Illinois
Chicago, Illinois, United States
United States, Indiana
Indianapolis, Indiana, United States
United States, Iowa
Iowa City, Iowa, United States
United States, Kansas
Wichita, Kansas, United States
United States, Kentucky
University of Kentucky Recruiting
Lexington, Kentucky, United States, 40536
Louisville, Kentucky, United States
United States, Louisiana
New Orleans, Louisiana, United States
United States, Massachusetts
Boston, Massachusetts, United States
United States, Minnesota
Minneapolis, Minnesota, United States
United States, Missouri
Columbia, Missouri, United States
Kansas City, Missouri, United States
St. Louis, Missouri, United States
United States, Montana
Montana Metabolic Disease Center Withdrawn
Helena, Montana, United States, 59601
United States, Nebraska
Omaha, Nebraska, United States
United States, New York
Albany, New York, United States
Manhasset, New York, United States
New York, New York, United States
Rochester, New York, United States
Valhalla, New York, United States
United States, North Carolina
Chapel Hill, North Carolina, United States
United States, Ohio
Akron, Ohio, United States
Cincinnati, Ohio, United States
Columbus, Ohio, United States
United States, Oklahoma
Warren Clinic Genetics Recruiting
Tulsa, Oklahoma, United States, 74136
United States, Oregon
Portland, Oregon, United States
United States, Pennsylvania
Hershey, Pennsylvania, United States
Philadelphia, Pennsylvania, United States
Pittsburgh, Pennsylvania, United States
United States, Rhode Island
Providence, Rhode Island, United States
United States, South Dakota
Sioux Falls, South Dakota, United States
United States, Tennessee
Knoxville, Tennessee, United States
United States, Texas
Houston, Texas, United States
United States, Utah
Dixie Regional Medical Center Recruiting
Saint Geroge, Utah, United States, 84770
Salt Lake City, Utah, United States
United States, Virginia
University of Virginia Hospital Withdrawn
Charlottesville, Virginia, United States, 22908
Norfolk, Virginia, United States
United States, West Virginia
West Virginia Genetics Center, Department of Pediatrics Recruiting
Morgantown, West Virginia, United States, 26506
United States, Wisconsin
Milwaukee, Wisconsin, United States
Sponsors and Collaborators
BioMarin Pharmaceutical
Study Director: Amy Fowles BioMarin Pharmaceutical
  More Information

No publications provided

Responsible Party: BioMarin Pharmaceutical Identifier: NCT00778206     History of Changes
Other Study ID Numbers: PKUDOS-01, PKUDOS Registry
Study First Received: October 21, 2008
Last Updated: August 15, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by BioMarin Pharmaceutical:

Additional relevant MeSH terms:
Amino Acid Metabolism, Inborn Errors
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases processed this record on November 24, 2014