Current Environment:


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


Phenylketonuria, Hyperphenylalaninaemia

Recruitment Status


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.

Eligibility Criteria

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


Intervention Type

Intervention Name





Min Age


Max Age


Download Date

October 12, 2022

Principal Investigator


Primary Contact Information

For more information on this trial, visit


For more information and to contact the study team:

PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry NCT00778206