Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria

• Register: ClinicalTrials.gov
• Last refreshed on: 19 February 2015
• Main ID: NCT00104260
• Date of registration: 24/02/2005
• Prospective Registration: No
• Primary sponsor: BioMarin Pharmaceutical
• Public title: Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria
• Scientific title: A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels
• Date of first enrolment: December 2004
• Target sample size: 700
• Recruitment status: Completed
• URL: http://clinicaltrials.gov/show/NCT00104260
• Study type: Interventional
• Study design: Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
• Phase: Phase 2

Countries of recruitment

United States

Key inclusion & exclusion criteria

Inclusion Criteria:

- Age >/= 8 years

- Blood Phe level >/= 450 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)

- Male and Female subjects of childbearing potential childbearing potential (if
sexually active and non-sterile) 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



Age minimum: 8 Years
Age maximum: N/A
Gender: Both

Health Condition(s) or Problem(s) studied

Phenylketonurias

Intervention(s)

Drug: sapropterin dihydrochloride

Primary Outcome(s)

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 Outcome(s)

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

Secondary ID(s)

PKU-001

Source(s) of Monetary Support

Please refer to primary and secondary sponsors