The Center for Molecular and Human Genetics is involved in an expanded access program for sapropterin dihydrochloride, or sapropterin, an investigational treatment for phenylketonuria (PKU), a rare genetic metabolic disorder that, if left unmanaged in infants and children, can result in severe mental retardation. Currently there are eight patients enrolled in the expanded access program at Nationwide Children’s Hospital. Under an expanded access program, the U.S. Food and Drug Administration allows early access to drugs that are being developed to treat serious diseases based on certain circumstances.
“By making sapropterin available through expanded access, we hope patients living with PKU will experience lower Phe levels and increased Phe tolerance,” said Kim McBride, MD, principal investigator in the Center for Molecular and Human Genetics. “Since elevated Phe levels are toxic to the brain and can lead to severe health complications, we are encouraged there may be a new drug treatment designed to manage Phe levels in this patient population.”