Metabolism Program | Research & Innovation

The Metabolism Program at Boston Children's Hospital is actively engaged in groundbreaking basic science and clinical research.

Researchers at Boston Children's are looking into new treatments and cures for several metabolic disorders:

• Clinical trials are underway in the Metabolic Program to test drugs that can treat phenylketonuria (PKU), a disorder in which the body can't completely break down the amino acid phenylalanine, which is present in the proteins that we eat. Currently, strict dietary changes are the only way to treat PKU. Untreated amino acid disorders can result in severe disabilities.

• Another research project is investigating how certain metabolic diseases in pregnancy (such as maternal PKU, maternal homocystinuria, maternal histidinemia, and maternal cystathioninemia, among others) affect the developing baby. The findings can pave the way for the development of new treatments to prevent these disorders from causing birth defects.

• Clinical trials for enzyme replacement in lysosomal storage diseases such as Hurler syndrome, Hunter syndrome, Maroteaux-Lamy disease, Pompe disease, and Fabry disease are also being conducted.

• The Metabolic Program at Boston Children's has one of the world's largest and most advanced research programs in galactosemia. Studies underway include assessing adults with galactosemia and examining the genes in galactosemia to determine the cause for variability in outcome.
  • One of the new, important activities in galactosemia research is to begin to create induced stem cells from the skin cells of patients with hereditary galactosemia. Hopefully these stem cells can then be converted into brain cells, which will help us better study the mechanism of disease. Also, we hope to be able to perform gene therapy on the brain cells as an introduction to future studies that may include cell transplantation.

Learn more about research at Boston Children's.