Phenylketonuria (PKU) MedDRA version: 6.1 Classification code 10034872
Conditions
Sponsors
BioMarin Pharmaceutical Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: · Clinical diagnosis of PKU with hyperphenylalaninemia (HPA) documented by at least one blood Phe measurement >/=360 umol/L (6 mg/dL) · Under dietary control with a Phe-restricted diet as evidenced by: · Estimated daily Phe tolerance =65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: · Any condition that, in the view of the PI, renders the subject at high risk from treatment compliance and/or completing the study · Prior history of organ transplantation · Perceived to be unreliable or unavailable for study participation or 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 · ALT > 2 times the upper limit of normal (i.e., Grade 1 or higher based on World Health Organization Toxicity Criteria) at screening (See Appendix 2) · 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) · 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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The primary objective is to evaluate the ability of Phenoptin to increase phenylalanine (Phe) tolerance in children with phenylketonuria who are following a Phe-restricted diet.;Secondary Objective: The secondary objectives are: 1. To evaluate the ability of Phenoptin to reduce blood Phe levels in children with phenylketonuria who are following a Phe-restricted diet 2. To compare the ability of Phenoptin versus placebo to increase Phe tolerance in children with phenylketonuria who are following a Phe-restricted diet 3. To evaluate the safety of Phenoptin as compared with placebo in this subject population 4. To explore the potential reduction in the cost of medical foods and Phe-free formulas;Primary end point(s): The primary measure of efficacy will be the amount of dietary Phe tolerated during Phenoptin treatment compared with pre-treatment while maintaining adequate blood Phe control. | — |
Countries
Germany, Spain
Outcome results
None listed