A Phase 2, Multicenter, Open-label Study to Evaluate the Safety and Efficacy of Phenoptin in Subjects with Hyperphenylalaninemia Due to Primary BH4 Deficiency

• Conditions: Phenylketonuria (PKU); MedDRA version: 8.1Level: LLTClassification code 10034872Term: Phenylketonuria

• Registration Number: EUCTR2005-003778-13-DE
• Lead Sponsor: BioMarin Pharmaceutical Inc

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2006-06-14
• Last Update Posted: 19 March 2012

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 15

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

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

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified