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

Condition	Treatment or Intervention	Phase
Phenylketonurias	Drug: sapropterin hydrochloride, 6R-BH4 tetrahydrobiopterin	Phase III

Further Study Details: 

Primary Outcomes: The primary objective is to evaluate the efficacy of Phenoptin™ in reducing blood Phe levels in subjects with phenylketonuria
Secondary Outcomes: A secondary objective of this study is to evaluate the safety of Phenoptin™ versus placebo in this subject population.; A secondary objective is to evaluate the efficacy of Phenoptin™ versus placebo in this subject population with respect to: The mean change in weekly blood Phe levels during the 6 weeks of treatment; The proportion of subjects who have blood Phe levels </=600 μmol/L at Week 6.
Expected Total Enrollment:  100

Ages Eligible for Study:  8 Years and above,  Genders Eligible for Study:  Both

Criteria

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 Phe level of >/=30% compared with baseline
• Blood Phe level >/=600 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) 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

Barbara Lyons, R.N.      415.506.5700, 866.906.6100    Barbara@BMRN.com

California
      Los Angeles,  California,  United States; Recruiting
      Oakland,  California,  United States; Recruiting
Connecticut
      New Haven,  Connecticut,  United States; Recruiting
Illinois
      Chicago,  Illinois,  United States; Recruiting
Massachusetts
      Boston,  Massachusetts,  United States; Recruiting
Minnesota
      Minneapolis,  Minnesota,  United States; Recruiting
Missouri
      St. Louis,  Missouri,  United States; Recruiting
New York
      New York,  New York,  United States; Recruiting
Oregon
      Portland,  Oregon,  United States; Recruiting
Pennsylvania
      Pittsburgh,  Pennsylvania,  United States; Recruiting
Texas
      Dallas,  Texas,  United States; Recruiting
Utah
      Salt Lake City,  Utah,  United States; Recruiting
Wisconsin
      Madison,  Wisconsin,  United States; Recruiting

Study ID Numbers:  PKU-003
Record last reviewed:  February 2005
Last Updated:  February 25, 2005
Record first received:  February 24, 2005
ClinicalTrials.gov Identifier:  NCT00104247
Health Authority: United States: Food and Drug Administration
ClinicalTrials.gov processed this record on 2005-04-08