Try the modernized beta website. Learn more about the modernization effort.
Working… Menu

Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

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. Identifier: NCT00104247
Recruitment Status : Completed
First Posted : February 25, 2005
Results First Posted : April 16, 2009
Last Update Posted : July 23, 2014
Information provided by:
BioMarin Pharmaceutical

Brief Summary:
The primary objective of this study is to evaluate the efficacy of Phenoptin™ (sapropterin dihydrochloride) in reducing blood phenylalanine (Phe) levels in subjects with phenylketonuria.

Condition or disease Intervention/treatment Phase
Phenylketonurias Drug: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin Phase 3

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 89 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Double
Primary Purpose: Treatment
Official Title: A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels
Study Start Date : March 2005
Actual Study Completion Date : February 2006

Primary Outcome Measures :
  1. Change in Blood Phenylalanine Levels From Baseline to Week 6. [ Time Frame: baseline to week 6 ]

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.

Layout table for eligibility information
Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • 8 years of age and older
  • Received at least 7 out of 8 scheduled doses in Study PKU 001
  • Responsive to Phenoptin™ in Study PKU-001, defined as a reduction in blood Phenylalanine level of >/=30% compared with baseline
  • Blood Phenylalanine level >/=450 μmol/L at screening
  • Willing and able to provide written informed consent or, in the case of subjects under the age of 18, provide written assent (if required) and written informed consent by a parent or legal guardian, after the nature of the study has been explained
  • Negative urine pregnancy test at screening (females of child-bearing potential)
  • Male and Female subjects of childbearing potential (if sexually active) must be using acceptable birth control measures, as determined by the investigator, and willing to continue to use acceptable birth control measures while participating in the study
  • Willing and able to comply with study procedures
  • Willing to continue current diet unchanged while participating in the study

Exclusion Criteria:

  • Perceived to be unreliable or unavailable for study participation or, if under the age of 18, have parents or legal guardians who are perceived to be unreliable or unavailable
  • Use of any investigational agent other than Phenoptin™ within 30 days prior to screening, or requirement for any investigational agent or investigational vaccine prior to completion of all scheduled study assessments
  • Pregnant or breastfeeding, or considering pregnancy
  • ALT >5 times the upper limit of normal (i.e., Grade 3 or higher based on World Health Organization Toxicity Criteria) at screening
  • Concurrent disease or condition that would interfere with study participation or safety (e.g., seizure disorder, oral steroid-dependent asthma or other condition requiring oral or parenteral corticosteroid administration, or insulin-dependent diabetes, or organ transplantation recipient)
  • Serious neuropsychiatric illness (e.g., major depression) not currently under medical management
  • Requirement for concomitant treatment with any drug known to inhibit folate synthesis (e.g., methotrexate)
  • Concurrent use of levodopa
  • Clinical diagnosis of primary BH4 deficiency

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): NCT00104247

Layout table for location information
United States, California
Los Angeles, California, United States
Oakland, California, United States
United States, Connecticut
New Haven, Connecticut, United States
United States, Illinois
Chicago, Illinois, United States
United States, Massachusetts
Boston, Massachusetts, United States
United States, Minnesota
Minneapolis, Minnesota, United States
United States, Missouri
St. Louis, Missouri, United States
United States, New York
New York, New York, United States
United States, Oregon
Portland, Oregon, United States
United States, Pennsylvania
Pittsburgh, Pennsylvania, United States
United States, Texas
Dallas, Texas, United States
United States, Utah
Salt Lake City, Utah, United States
United States, Wisconsin
Madison, Wisconsin, United States
Sponsors and Collaborators
BioMarin Pharmaceutical
Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
Layout table for additonal information Identifier: NCT00104247    
Other Study ID Numbers: PKU-003
First Posted: February 25, 2005    Key Record Dates
Results First Posted: April 16, 2009
Last Update Posted: July 23, 2014
Last Verified: July 2014
Keywords provided by BioMarin Pharmaceutical:
Phenylalanine Hydroxylase
Additional relevant MeSH terms:
Layout table for MeSH terms
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
Anti-Arrhythmia Agents
Calcium Channel Blockers
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action
Calcium-Regulating Hormones and Agents
Physiological Effects of Drugs
Vasodilator Agents