The Purpose of this study is to provide patients with hyperphenylalaninemia (HPA) due toPhenylketonuria (PKU) access to sapropterin dihydrochloride and to collect moreinformation about the safety of the drug in an expanded access program (EAP) untilcommercial product is available.
The sapropterin EAP (SEAP) is an open-label, multi-center program designed to provide
access to sapropterin dihydrochloride for patients diagnosed with hyperphenylalaninemia
due to PKU. All patients with a confirmed diagnosis of hyperphenylalaninemia due to PKU
who are not currently enrolled in a clinical study with sapropterin dihydrochloride and
meet the requisite inclusion criteria and do not meet any of the exclusion criteria may
be eligible to participate in this program. Eligible patients may receive sapropterin
dihydrochloride and participate in the program until commercial drug is available,
however, the program will not continue beyond 2 months after the product receives
marketing approval from the FDA. During the program, physicians will use their clinical
judgment to assess whether a patient is a responder to sapropterin dihydrochloride.
Participating physicians will measure blood Phe levels at baseline prior to treatment and
then at least once between Day 7 and Day 30 following initiation of treatment to
determine if the patient is a responder. A responder is a patient that has a clinically
significant reduction in either the absolute or percent decrease in blood phenylalanine
level compared to pre-treatment levels. The recommended starting dose of sapropterin
dihydrochloride is 20 mg/kg/day. Physicians treating their patients with sapropterin
dihydrochloride will be able to adjust the dose within a range of 5 mg/kg/day to 20
mg/kg/day if warranted in their clinical judgment. Adverse event information will be
collected in an ongoing fashion through patient reporting AEs to their physician.
Physicians will ask patients for information regarding adverse events that have occurred
since the last visit. An adverse event report form will be completed in these cases and
sent to BioMarin.
Drug: Sapropterin dihydrochloride
20mg/kg/day orally, physicians may adjust the dose within a range of 5-20mg/kg/day as
warranted by their clinical judgment.
Other Name: Kuvan,Phenoptin
Inclusion Criteria:
1. Patient has hyperphenylalaninemia due to PKU, a rare and serious disease
2. Patient is not participating in a sapropterin dihydrochloride clinical study
3. Patient is older than 8 years of age
4. Patient is willing and able to provide written informed consent or, in the case of
under the age of 18, provide written assent (if required) and written informed
consent by a parent or legal guardian
5. If female and of child bearing potential, the patient has a negative urine pregnancy
test within 24 hours prior to enrollment (females of child-bearing potential only)
and will be using adequate contraceptive methods to avoid pregnancy while
participating in the program
6. Patient is willing and able to comply with program procedures
7. Patient lives in the United States
Exclusion Criteria:
1. Patient is perceived to be unreliable or unwilling to comply with program
participation or, if under the age of 18, have parents or legal guardians who are
perceived to be unreliable or unwilling to comply with program participation
2. Patient has a concurrent disease or condition that would interfere with program
participation or safety
3. Patient is 8 years old or younger
4. Patients is eligible for enrolling in PKU-010
5. Patient is participating in an ongoing study with sapropterin dihydrochloride
6. Patient is pregnant, breast feeding or considering pregnancy
7. Patient is taking levodopa
Los Angeles, California, United States
Orange, California, United States
San Diego, California, United States
Stanford, California, United States
Denver, Colorado, United States
Gainseville, Florida, United States
Tampa, Florida, United States
Chicago, Illinois, United States
Indianapolis, Indiana, United States
Louisville, Kentucky, United States
New Orleans, Louisiana, United States
Bangor, Maine, United States
Boston, Massachusetts, United States
Minneapolis, Minnesota, United States
Columbia, Missouri, United States
Kansas City, Missouri, United States
St. Louis, Missouri, United States
Newark, New Jersey, United States
Manhasset, New York, United States
Rochester, New York, United States
Stony Brook, New York, United States
Valhalla, New York, United States
Akron, Ohio, United States
Columbus, Ohio, United States
Hershey, Pennsylvania, United States
Philadelphia, Pennsylvania, United States
Pittsburgh, Pennsylvania, United States
Florence, South Carolina, United States
Sioux Falls, South Dakota, United States
Galveston, Texas, United States
Houston, Texas, United States
Salt Lake City, Utah, United States
Charlottesville, Virginia, United States
Norfolk, Virginia, United States
Madison, Wisconsin, United States
Milwakee, Wisconsin, United States