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

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: NCT00778206
Recruitment Status : Recruiting
First Posted : October 23, 2008
Last Update Posted : January 24, 2019
Information provided by (Responsible Party):
BioMarin Pharmaceutical

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

Condition or disease Intervention/treatment
Phenylketonuria Hyperphenylalaninaemia 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 intends to begin receiving Kuvan therapy within 90 days of entering the registry.

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Study Type : Observational
Estimated Enrollment : 3500 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Study Start Date : September 2008
Estimated Primary Completion Date : September 2023
Estimated Study Completion Date : September 2023

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
  • 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

Primary Outcome Measures :
  1. Observational Data Only [ Time Frame: Periodically ]
    Registry data will be analyzed and reported periodically, demographic and baseline characteristics will be summarized.

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:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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

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): NCT00778206

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Contact: Caroline Moore (651) 523-0310

  Hide Study Locations
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United States, California
Childrens Hospital of Los Angeles Recruiting
Los Angeles, California, United States, 90027
LAC and USC Medical Center Recruiting
Los Angeles, California, United States, 90033
UCLA Recruiting
Los Angeles, California, United States, 90095
Sutter Medical Center, Institute for Medical Research Terminated
Sacramento, California, United States, 95816
University of California, San Diego School of Medicine Completed
San Diego, California, United States, 92103
Stanford University, Pediatrics Recruiting
Stanford, California, United States, 94305
United States, Colorado
Children's Hospital, University of Colorado School of Medicine Recruiting
Aurora, Colorado, United States, 80045
United States, Connecticut
University of Connecticut Health Partners Terminated
West Hartford, Connecticut, United States, 06119
United States, District of Columbia
Children's National Medical Center Recruiting
Washington, District of Columbia, United States, 20010
United States, Florida
University of Florida Completed
Gainesville, Florida, United States, 32610
Nemours Children's Clinic Terminated
Jacksonville, Florida, United States, 32207
Universtiy of Miami, Miller School of Medicine, Department of Human Genetics Recruiting
Miami, Florida, United States, 33136
Nemours Childrens Clinic - Orlando Terminated
Orlando, Florida, United States, 32806
University of South Florida Recruiting
Tampa, Florida, United States, 33606
Tampa Children's Hospital, St. Joseph's Pediatric Endocrine Associates Recruiting
Tampa, Florida, United States, 33607
United States, Georgia
Emory University Recruiting
Decatur, Georgia, United States, 30033
United States, Illinois
Ann and Robert H. Lurie Children's Hospital of Chicago Recruiting
Chicago, Illinois, United States, 60611
United States, Indiana
Indiana University School of Medicine Recruiting
Indianapolis, Indiana, United States, 46202
United States, Iowa
University of Iowa Recruiting
Iowa City, Iowa, United States, 52242
United States, Kansas
Wesley Pediatric Faculty Clinic Recruiting
Wichita, Kansas, United States, 67208
United States, Kentucky
University of Kentucky Recruiting
Lexington, Kentucky, United States, 40536
University of Louisville Recruiting
Louisville, Kentucky, United States, 40202
United States, Louisiana
Hayward Genetics, Tulane Medical School Recruiting
New Orleans, Louisiana, United States, 70112
United States, Maryland
Johns Hopkins University School of Medicine Recruiting
Baltimore, Maryland, United States, 21287
United States, Massachusetts
Children's Hosptial of Boston Recruiting
Boston, Massachusetts, United States, 02115
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55455
United States, Missouri
University of Missouri Health Care Recruiting
Columbia, Missouri, United States, 65212
Children's Mercy Hospital Genetics Recruiting
Kansas City, Missouri, United States, 64123
Washington University School of Medicine Recruiting
Saint Louis, Missouri, United States, 63110
United States, Montana
Montana Metabolic Disease Center Withdrawn
Helena, Montana, United States, 59601
United States, Nebraska
University of Nebraska Medical Center Completed
Omaha, Nebraska, United States, 68198
United States, New Jersey
AHS Hospital Corp Recruiting
Morristown, New Jersey, United States, 07960
United States, New York
Albany Medical Center Recruiting
Albany, New York, United States, 12208
North Shore University Hospital Terminated
Manhasset, New York, United States, 11030
Mt. Sinai Medical Center Terminated
New York, New York, United States, 10028
University of Rochester Medical Center Recruiting
Rochester, New York, United States, 14642
Westchester Medical Center Recruiting
Valhalla, New York, United States, 10595
United States, North Carolina
University of North Carolina Recruiting
Chapel Hill, North Carolina, United States, 27599
United States, Ohio
Akron Children's Hospital Recruiting
Akron, Ohio, United States, 44308
Cincinnati Children's Hospital Medical Center Withdrawn
Cincinnati, Ohio, United States, 45229
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43205
United States, Oklahoma
Warren Clinic Genetics Terminated
Tulsa, Oklahoma, United States, 74136
United States, Oregon
Oregon Health and Science University Recruiting
Portland, Oregon, United States, 97239
United States, Pennsylvania
Penn State, Milton S. Hershey Medical Center Recruiting
Hershey, Pennsylvania, United States, 17033
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
St. Christophers Hospital for Children Recruiting
Philadelphia, Pennsylvania, United States, 19134
Children's Hospital of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15224
United States, Rhode Island
Rhode Island Hospital, Hasbro's Children's Hospital Terminated
Providence, Rhode Island, United States, 02903
United States, South Carolina
Greenwood Genetic Center Recruiting
Greenwood, South Carolina, United States, 29646
United States, South Dakota
Sanford Children's Specialty Clinic Recruiting
Sioux Falls, South Dakota, United States, 57117
United States, Tennessee
University of Tennessee Genetic Center Terminated
Knoxville, Tennessee, United States, 37920
United States, Texas
University of Texas Withdrawn
Houston, Texas, United States, 77030
United States, Utah
Dixie Regional Medical Center Terminated
Saint George, Utah, United States, 84770
University of Utah Recruiting
Salt Lake City, Utah, United States, 84132
United States, Virginia
University of Virginia Hospital Withdrawn
Charlottesville, Virginia, United States, 22908
Children's Hospital of the King's Daughters Recruiting
Norfolk, Virginia, United States, 23507
United States, West Virginia
West Virginia Genetics Center, Department of Pediatrics Recruiting
Morgantown, West Virginia, United States, 26506
United States, Wisconsin
Children's Hospital of Wisconsin Recruiting
Milwaukee, Wisconsin, United States, 53226
Sponsors and Collaborators
BioMarin Pharmaceutical
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Study Director: Joshua Lilienstein, MD BioMarin Pharmaceutical

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Responsible Party: BioMarin Pharmaceutical Identifier: NCT00778206     History of Changes
Other Study ID Numbers: PKUDOS-01
PKUDOS Registry ( Registry Identifier: PKUDOS )
First Posted: October 23, 2008    Key Record Dates
Last Update Posted: January 24, 2019
Last Verified: January 2019

Keywords provided by BioMarin Pharmaceutical:

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