The primary objective is to evaluate the degree and frequency of response to Phenoptin™ (sapropterin hydrochloride), as demonstrated by a reduction in blood phenylalanine (Phe) level among subjects with phenylketonuria (PKU) who have elevated Phe levels. A secondary objective of this study is to evaluate the safety of Phenoptin™ treatment in this subject population, and identify individuals in this subject population who respond to Phenoptin™ treatment with a reduction in blood Phe level.

Condition	Treatment or Intervention	Phase
Phenylketonurias	Drug: sapropterin hydrochloride	Phase II

Further Study Details: 

Primary Outcomes: Evaluate the degree and frequency of response to Phenoptin™, as demonstrated by a reduction in blood Phe level among subjects with PKU who have elevated Phe levels
Secondary Outcomes: Evaluate the safety of Phenoptin™ treatment in this subject population, and identify individuals in this subject population who respond to Phenoptin™ treatment with a reduction in blood Phe level
Expected Total Enrollment:  400

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

Criteria

Inclusion Criteria:

• Age >/= 8 years
• Blood Phe level >/= 600 umol/L at screening
• Clinical diagnosis of PKU with hyperphenylalaninemia documented by past medical history of at least one blood Phe measurement >/= 360 umol/L (6 mg/dL)
• 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 (non-sterile females of child-bearing potential only)
• Female subject 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 within 30 days prior to screening, or requirement for any investigational agent or 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)
• Serious neuropsychiatric illness (e.g., major depression) not currently under medical control
• 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, RN      415.506.5700, 866.906.6100    Barbara@BMRN.com

California
      Oakland,  California,  United States; Recruiting
      Los Angeles,  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-001
Record last reviewed:  February 2005
Last Updated:  February 24, 2005
Record first received:  February 24, 2005
ClinicalTrials.gov Identifier:  NCT00104260
Health Authority: United States: Food and Drug Administration
ClinicalTrials.gov processed this record on 2005-04-08