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The purpose of this observational study is to learn more about people who have inherited conditions that cause hyperphenylalaninemia and who are treated with the current standard of care. People with hyperphenylalaninemia have elevated levels of phenylalanine, or Phe, in the blood, which can negatively affect the brain. As a longitudinal study, the research program will follow participants over an extended period of time. Researchers will collect neuropsychological information along with data on bone health and growth outcomes, quality of life and patient-reported outcomes across the lifespan. Longitudinal studies can provide insights that can lead to improved treatments in the future.
The study is accepting participants of all ages, born after 1963, who have hyperphenylalaninemia. Males and Females: All ages
In addition to their regular clinic visits, participants will receive examinations and testing specific to this study. If not completed previously, genotype testing will be done to confirm the diagnosis of the specific inherited condition causing hyperphenylalaninemia. Participants’ bone density may be tested through DEXA scans, and neuropsychological testing will also be conducted. Visits: Following a screening and baseline visit, study visits will occur annually. Duration: 5 years
Phenylalanine Families and Researchers Exploring Evidence Consortium (PHEFREE Consortium)
Genetic and Genomic Medicine Research
Georgianne Arnold, MD
For more information about the study or enrollment, please contact: Clinical Research Coordinator Angela Leshinski 412-692-5232
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
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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