COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC:

Get the latest research information from NIH: Menu

Sapropterin Expanded Access Program

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00484991
Expanded Access Status : Approved for marketing
First Posted : June 12, 2007
Last Update Posted : April 15, 2008
Information provided by:
BioMarin Pharmaceutical

Brief Summary:
The Purpose of this study is to provide patients with hyperphenylalaninemia (HPA) due to Phenylketonuria (PKU) access to sapropterin dihydrochloride and to collect more information about the safety of the drug in an expanded access program (EAP) until commercial product is available.

Condition or disease Intervention/treatment
Phenylketonuria Drug: Sapropterin dihydrochloride

Detailed Description:
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.

Layout table for study information
Study Type : Expanded Access
Official Title: Sapropterin Expanded Access Program

Intervention Details:
  • 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 Names:
    • Kuvan
    • Phenoptin

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   9 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00484991

Layout table for location information
United States, California
Los Angeles, California, United States
Orange, California, United States
San Diego, California, United States
Stanford, California, United States
United States, Colorado
Denver, Colorado, United States
United States, Florida
Gainseville, Florida, United States
Tampa, Florida, United States
United States, Illinois
Chicago, Illinois, United States
United States, Indiana
Indianapolis, Indiana, United States
United States, Kentucky
Louisville, Kentucky, United States
United States, Louisiana
New Orleans, Louisiana, United States
United States, Maine
Bangor, Maine, United States
United States, Massachusetts
Boston, Massachusetts, United States
United States, Minnesota
Minneapolis, Minnesota, United States
United States, Missouri
Columbia, Missouri, United States
Kansas City, Missouri, United States
St. Louis, Missouri, United States
United States, New Jersey
Newark, New Jersey, United States
United States, New York
Manhasset, New York, United States
Rochester, New York, United States
Stony Brook, New York, United States
Valhalla, New York, United States
United States, Ohio
Akron, Ohio, United States
Columbus, Ohio, United States
United States, Pennsylvania
Hershey, Pennsylvania, United States
Philadelphia, Pennsylvania, United States
Pittsburgh, Pennsylvania, United States
United States, South Carolina
Florence, South Carolina, United States
United States, South Dakota
Sioux Falls, South Dakota, United States
United States, Texas
Galveston, Texas, United States
Houston, Texas, United States
United States, Utah
Salt Lake City, Utah, United States
United States, Virginia
Charlottesville, Virginia, United States
Norfolk, Virginia, United States
United States, Wisconsin
Madison, Wisconsin, United States
Milwakee, Wisconsin, United States
Sponsors and Collaborators
BioMarin Pharmaceutical
Layout table for additonal information
Responsible Party: BioMarin BPPS, BioMarin Pharmaceutical Inc. Identifier: NCT00484991    
Other Study ID Numbers: SEAP-001
First Posted: June 12, 2007    Key Record Dates
Last Update Posted: April 15, 2008
Last Verified: April 2008
Keywords provided by BioMarin Pharmaceutical:
Hydroxylase Deficiency
Additional relevant MeSH terms:
Layout table for MeSH terms
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Anti-Arrhythmia Agents
Calcium Channel Blockers
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action
Calcium-Regulating Hormones and Agents
Physiological Effects of Drugs
Vasodilator Agents