Phenylketonuria (PKU) MedDRA version: 6.1 Classification code 10034872
Conditions
Sponsors
BioMarin Pharmaceutical Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. 8 years of age and older 2. Received at least 7 out of 8 scheduled doses in Study PKU-001 3. Responsive to Phenoptin in Study PKU-001, defined as a reduction in blood Phe level of =/> 30% compared with baseline 4. Blood Phe level =/> 600 µmol/L at screening 5. 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 6. Negative urine pregnancy test at screening (females of child-bearing potential) 7. 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 8. Willing and able to comply with study procedures 9. Willing to continue current diet unchanged while participating in the study Are the trial subjects under 18? yes Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) yes F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1. 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 2. 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 3. Pregnant or breastfeeding, or considering pregnancy 4. ALT >5 times the upper limit of normal (i.e., Grade 3 or higher based on World Health Organization Toxicity Criteria) at screening 5. 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) 6. Serious neuropsychiatric illness (e.g., major depression) not currently under medical management 7. Requirement for concomitant treatment with any drug known to inhibit folate synthesis (e.g., methotrexate) 8. Concurrent use of levodopa 9. Clinical diagnosis of primary BH4 deficiency
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The primary objective is to evaluate the efficacy of Phenoptin in reducing blood Phe levels in subjects with phenylketonuria.; Secondary Objective: The secondary objectives are: 1. To evaluate the safety of Phenoptin versus placebo in this subject population. 2. 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. ;Primary end point(s): The primary efficacy endpoint is the Phe level at Week 6, which will be compared by testing the difference in mean blood Phe levels in the placebo and Phenoptin treatment groups at Week 6. The Week 6 mean blood Phe levels in each group will be compared using an analysis of covariance model with baseline Phe level and treatment as the only covariates. The model willl utilize a last observation carried forward (LOCF) imputation approach to deal with missing data. | — |
Countries
Germany, Ireland, Italy, United Kingdom
Outcome results
None listed