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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. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00778206
Recruitment Status : Active, not recruiting
First Posted : October 23, 2008
Last Update Posted : May 15, 2020
Sponsor:
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 intend to begin receiving Kuvan therapy within 90 days of entering the registry.

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Study Type : Observational
Actual Enrollment : 1993 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
-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.
Other Name: sapropterin dihydrochloride




Primary Outcome Measures :
  1. Observational Data Only [ Time Frame: 15 years ]
    Registry data including demographic and baseline characteristics



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
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

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 ClinicalTrials.gov identifier (NCT number): NCT00778206


Locations
Show Show 41 study locations
Sponsors and Collaborators
BioMarin Pharmaceutical
Investigators
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Study Director: Joshua Lilienstein, MD BioMarin Pharmaceutical
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Responsible Party: BioMarin Pharmaceutical
ClinicalTrials.gov Identifier: NCT00778206    
Other Study ID Numbers: PKUDOS-01
PKUDOS Registry ( Registry Identifier: PKUDOS )
First Posted: October 23, 2008    Key Record Dates
Last Update Posted: May 15, 2020
Last Verified: May 2020
Keywords provided by BioMarin Pharmaceutical:
Phenylketonuria
Hyperphenylalaninemia
PKU
Phenylalanine
Additional relevant MeSH terms:
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Phenylketonurias
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