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The purpose of this observational study is to assess the long-term effects of Kuvan as part of normal medical care for phenylketonuria (PKU) by collecting and analyzing information about patients treated with this drug. PKU is caused by a problem with an enzyme that does not work properly, leading to an accumulation of a protein called phenylalanine that can cause physical and mental problems. Researchers hope to learn more about treatment of PKU by studying patient health and outcomes over a long period of time.
Subject to exclusion criteria, the study is accepting patients of all ages with a confirmed diagnosis of PKU with hyperphenylalaninemia who have either received Kuvan therapy, or currently receive Kuvan therapy, or intend to begin receiving Kuvan therapy within 90 days of entering the registry.
Males and Females: All Ages
Participants will take Kuvan as prescribed and will come to the PKU clinic at Children’s Hospital of Pittsburgh of UPMC for examinations and tests as prescribed by their doctors. Participants’ health and tests results over a period of years will be tracked in the study database.
None beyond normal care for PKU
Duration: 15 years
Study Description at National Institutes of Health
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Angela Leshinski, RD
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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