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

This study has been completed.
Information provided by:
BioMarin Pharmaceutical Identifier:
First received: February 24, 2005
Last updated: July 15, 2014
Last verified: July 2014
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 Intervention Phase
Phenylketonurias Drug: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin Phase 3

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:

Further study details as provided by BioMarin Pharmaceutical:

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

Enrollment: 89
Study Start Date: March 2005
Study Completion Date: February 2006

Ages Eligible for Study:   8 Years and older   (Child, Adult, Senior)
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
  Contacts and Locations
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Please refer to this study by its identifier: NCT00104247

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
  More Information

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number): Identifier: NCT00104247     History of Changes
Other Study ID Numbers: PKU-003
Study First Received: February 24, 2005
Results First Received: January 29, 2009
Last Updated: July 15, 2014

Keywords provided by BioMarin Pharmaceutical:
Phenylalanine Hydroxylase

Additional relevant 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
Vasodilator Agents processed this record on September 21, 2017