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

BioMarin Pharmaceutical

Status and phase

Completed

Phase 2

Conditions

Phenylketonurias

Treatments

Drug: sapropterin dihydrochloride

Study type

Interventional

Funder types

Industry

Identifiers

NCT00104260

PKU-001

Details and patient eligibility

About

The primary objective is to evaluate the degree and frequency of response to Phenoptin™ (sapropterin dihydrochloride), as demonstrated by a reduction in blood phenylalanine (Phe) level among subjects with phenylketonuria (PKU) who have elevated Phe levels. A secondary objective of this study is to 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.

Sex

All

Ages

8+ years old

Volunteers

No Healthy Volunteers

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