Phenylalanine Families and Researchers Exploring Evidence (PHEFREE)

The Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium studies the health, neurologic, cognitive, neuropsychiatric, patient-reported and quality-of-life outcomes in individuals with chronic elevations of the amino acid phenylalanine in blood (hyperphenylalaninemia). In the United States, elevated blood phenylalanine is typically detected at birth through newborn screening and is caused by inherited disorders affecting the metabolism of phenylalanine. The most common disorder is phenylketonuria (PKU) but the consortium also studies other rare disorders of phenylalanine metabolism, including defects in biopterin synthesis or recycling, or deficiency of the chaperone protein DNAJC12. In partnership with a patient advocacy group, the National PKU Alliance (NPKUA), the consortium provides informational and educational resources to patients, their families, their providers and the public regarding these rare disorders and trains the next generation of rare disease researchers and practitioners. The consortium has formed a clinical trial network with the facile ability to evaluate emerging novel assessment methods or therapies for these diseases. Its goals are to assess the longitudinal outcomes of this patient population and refine and improve current and future therapies for these disorders in phenylalanine metabolism.

The Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). PHEFREE is funded under grant number U54HD100982 as a collaboration between NCATS, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Neurological Disorders and Stroke (NINDS), and the Office of Dietary Supplements (ODS). All RDCRN consortia are supported by the network’s Data Management and Coordinating Center (DMCC) (U2CTR002818). Funding support for the DMCC is provided by NCATS and NINDS.