Phenylketonuria (PKU) Pediatric Research and Clinical Trials

Boston Children’s Hospital has the world’s largest research program at a pediatric hospital, and we’re known for pioneering new treatments. A large part of our success comes from our commitment to research—and to advancing the frontiers of what’s possible through our innovative approach.


Boston Children’s is a leading center in studies of new treatments for PKU.  It was the major center of the study that showed the benefit of Kuvan for those children with PKU who respond to this co-factor treatment. Currently, Children’s is a major participant in three additional studies of Kuvan.

Maternal PKU

Pregnant women with high levels of phenylalanine are at high risk for having babies with birth defects such as intellectual disabilities and congenital heart disease. PKU treatment during pregnancy during pregnancy can prevent this from happening. For the past 20 years, Children’s has studied a group of children who were not born with PKU, but whose mothers have PKU. This is paving the way for researchers to share valuable insight about maternal PKU treatment and prevention.

PKU research at Boston Children’s Metabolism Program

Boston Children’s Hospital is at the forefront of PKU research, investigating complex topics such as maternal PKU and alternative therapies for PKU. Read more about the research underway at Boston Children’s Metabolism Program.