Phenylketonuria (PKU) MedDRA version: 8.1 Level: LLT Classification code 10034872 Term: Phenylketonuria
Conditions
Interventions
Product Name: Phenoptin
Product Code: T1401
Pharmaceutical Form: Tablet
INN or Proposed INN: Sapropterin
CAS Number: 69056-38-8
Current Sponsor code: T1401
Other descriptive name: saproterin dihydroch
Sponsors
BioMarin Pharmaceutical Inc
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Individuals eligible to participate in this study include those who meet all of the following criteria: • Documented history of blood Phe level > 180 µmol/L on at least one occasion. • Established diagnosis of HPA due to primary BH4 deficiency with a documented defect in biopterin metabolism with blood or urine tests. • Willing and able to provide written informed consent or, in the case of subjects under the age of 18 years, provide written assent (if required) and written informed onsent by a parent or legal guardian, after the nature of the study has been explained, and prior to any research-related procedures • Negative urine pregnancy test at screening for females, if determined by the PI to be of child-bearing potential • Male and female subjects of 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 all study procedures • Able to take medication orally 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: Individuals not eligible to participate in this study include those who meet any of the following criteria: • Perceived to be unreliable or unavailable for study participation or, if under the age of 18 years, have parents or legal guardians who are perceived to be unreliable or unavailable • Use of any investigational agent (other than BH4) within 30 days prior to screening, or requirement for any investigational agent or vaccine prior to completion of all scheduled study assessments • Positive urine pregnancy test at screening (non-sterile females of child bearing potential only), already known to be pregnant or breastfeeding or planning a pregnancy in self or partner during the study • Female subjects of child bearing potential must be using an effective method of birth control, as determined by the PI, and willing to continue to use acceptable birth control measures • ALT > 2 times the upper limit of normal (i.e., Grade 1 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, insulin-dependent diabetes, or history of 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) • Clinical diagnosis of PKU due to phenylalanine hydroxylase deficiency • Any condition that, in the view of the PI, renders the subject at high risk from treatment compliance and/or completing the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The primary objective of the study is: • To evaluate the ability of Phenoptin treatment to control blood phenylalanine levels in subjects with HPA due to primary BH4 deficiency.;Secondary Objective: The secondary objective of the study is: • To evaluate the safety of Phenoptin treatment in this subject population. The exploratory objective of this study is: • To explore the effect of Phenoptin on serum levels of tyrosine, biopterin and neopterin during the conduct of the study.;Primary end point(s): The primary efficacy objective is the ability of Phenoptin to maintain blood Phe levels < 360 µmol/L after 8 weeks of Phenoptin treatment. | — |
Countries
Germany
Outcome results
None listed