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

Completed

• Conditions: Phenylketonuria; Hyperphenylalaninaemia
• Interventions: Drug: Kuvan

• Registration Number: NCT00778206
• Lead Sponsor: BioMarin Pharmaceutical

Brief Summary

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

• Study Start: 2008-09
• Study First Submitted: 2008-10-21
• Study First Submitted QC: 2008-10-22
• Study First Posted: 2008-10-23
• Primary Completion: 2021-01-29
• Study Completion: 2021-01-29
• Status Verified: 2022-09
• Last Update Submitted: 2022-10-11
• Last Update Posted: 2022-10-12

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 1887

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
2. PKU MOMS Subregistry	Kuvan	Patients with PKU who are pregnant at enrollment in the registry or who become pregnant while participating in the registry.

Primary Outcome Measures

Name	Time	Method
Observational Data Only	15 years	Registry data including demographic and baseline characteristics

Trial Locations

Locations (45)

Childrens Hospital of Los Angeles; 🇺🇸 Los Angeles, California, United States

LAC and USC Medical Center; 🇺🇸 Los Angeles, California, United States

UCLA; 🇺🇸 Los Angeles, California, United States

Children's Hospital of Orange County; 🇺🇸 Orange, California, United States

University of California, San Diego; 🇺🇸 San Diego, California, United States

Stanford University, Pediatrics; 🇺🇸 Stanford, California, United States

Children's Hospital, University of Colorado School of Medicine; 🇺🇸 Aurora, Colorado, United States

Children's National Medical Center; 🇺🇸 Washington, District of Columbia, United States

University of Florida; 🇺🇸 Gainesville, Florida, United States

University of Miami, Miller School of Medicine, Department of Human Genetics; 🇺🇸 Miami, Florida, United States

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