Clinical trial NCT00104260: Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria
Official title: A Phase 2, Multicenter, Open-Label Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE2
Conditions: Phenylketonurias
Lead sponsor: BioMarin Pharmaceutical
Sponsor class: INDUSTRY
First posted: 2005-02-25
Enrollment: 700
Sex: ALL
Minimum age (years): 8
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
measure: Evaluate the degree and frequency of response to Phenoptin™, as demonstrated by a reduction in blood Phe level among subjects with PKU who have elevated Phe levels
Secondary outcomes:
measure: 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
Other outcomes:
Locations:
city: Los Angeles
country: United States
state: California
city: Oakland
country: United States
state: California
city: New Haven
country: United States
state: Connecticut
city: Chicago
country: United States
state: Illinois
city: Boston
country: United States
state: Massachusetts
city: Minneapolis
country: United States
state: Minnesota
city: St. Louis
country: United States
state: Missouri
city: New York
country: United States
state: New York
city: Portland
country: United States
state: Oregon
city: Pittsburgh
country: United States
state: Pennsylvania
city: Dallas
country: United States
state: Texas
city: Salt Lake City
country: United States
state: Utah
city: Madison
country: United States
state: Wisconsin
Study officials:
References: