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

NCT ID: NCT00778206

Last Updated: 2022-10-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

1887 participants

Study Classification

OBSERVATIONAL

Study Start Date

2008-09-30

Study Completion Date

2021-01-29

Brief Summary

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

Detailed Description

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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.

Conditions

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Phenylketonuria Hyperphenylalaninaemia

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

No interventions assigned to this group

2. PKU MOMS Subregistry

Patients with PKU who are pregnant at enrollment in the registry or who become pregnant while participating in the registry.

Kuvan

Intervention Type DRUG

-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.

Interventions

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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.

Intervention Type DRUG

Other Intervention Names

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sapropterin dihydrochloride

Eligibility Criteria

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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


* 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 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


* 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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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BioMarin Pharmaceutical

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Kristin Lindstrom, MD

Role: STUDY_DIRECTOR

BioMarin Pharmaceutical

Locations

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Childrens Hospital of Los Angeles

Los Angeles, California, United States

Site Status

LAC and USC Medical Center

Los Angeles, California, United States

Site Status

UCLA

Los Angeles, California, United States

Site Status

Children's Hospital of Orange County

Orange, California, United States

Site Status

University of California, San Diego

San Diego, California, United States

Site Status

Stanford University, Pediatrics

Stanford, California, United States

Site Status

Children's Hospital, University of Colorado School of Medicine

Aurora, Colorado, United States

Site Status

Children's National Medical Center

Washington D.C., District of Columbia, United States

Site Status

University of Florida

Gainesville, Florida, United States

Site Status

University of Miami, Miller School of Medicine, Department of Human Genetics

Miami, Florida, United States

Site Status

University of South Florida

Tampa, Florida, United States

Site Status

Tampa Children's Hospital, St. Joseph's Pediatric Endocrine Associates

Tampa, Florida, United States

Site Status

Emory University

Decatur, Georgia, United States

Site Status

Ann and Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, United States

Site Status

Indiana University School of Medicine

Indianapolis, Indiana, United States

Site Status

University of Iowa

Iowa City, Iowa, United States

Site Status

Wesley Pediatric Faculty Clinic

Wichita, Kansas, United States

Site Status

University of Kentucky

Lexington, Kentucky, United States

Site Status

Kosair Charities Pediatric Clinical Research Unit

Louisville, Kentucky, United States

Site Status

Tulane University Medical School

New Orleans, Louisiana, United States

Site Status

Johns Hopkins University School of Medicine

Baltimore, Maryland, United States

Site Status

Children's Hosptial of Boston

Boston, Massachusetts, United States

Site Status

University of Minnesota

Minneapolis, Minnesota, United States

Site Status

University of Missouri Health Care

Columbia, Missouri, United States

Site Status

St. Louis Children's Hospital

St Louis, Missouri, United States

Site Status

University of Nebraska

Omaha, Nebraska, United States

Site Status

AHS Hospital Corp

Morristown, New Jersey, United States

Site Status

Albany Medical Center

Albany, New York, United States

Site Status

University of Rochester Medical Center

Rochester, New York, United States

Site Status

Westchester Medical Center

Valhalla, New York, United States

Site Status

University of North Carolina

Chapel Hill, North Carolina, United States

Site Status

Akron Children's Hospital

Akron, Ohio, United States

Site Status

Nationwide Children's Hospital

Columbus, Ohio, United States

Site Status

University of Oklahoma

Oklahoma City, Oklahoma, United States

Site Status

Oregon Health and Science University

Portland, Oregon, United States

Site Status

Penn State, Milton S. Hershey Medical Center

Hershey, Pennsylvania, United States

Site Status

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status

St. Christophers Hospital for Children

Philadelphia, Pennsylvania, United States

Site Status

Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status

Greenwood Genetic Center

Greenwood, South Carolina, United States

Site Status

Sanford Children's Specialty Clinic

Sioux Falls, South Dakota, United States

Site Status

University of Utah

Salt Lake City, Utah, United States

Site Status

Children's Hospital of the King's Daughters

Norfolk, Virginia, United States

Site Status

West Virginia Genetics Center, Department of Pediatrics

Morgantown, West Virginia, United States

Site Status

Children's Hospital of Wisconsin

Milwaukee, Wisconsin, United States

Site Status

Countries

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United States

Other Identifiers

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PKUDOS Registry

Identifier Type: REGISTRY

Identifier Source: secondary_id

PKUDOS-01

Identifier Type: -

Identifier Source: org_study_id

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