Duke Health pioneered the initial research and treatments for young children who are diagnosed with a rare and typically fatal condition called Pompe Disease, leading to the development of a multinational team, which includes Duke University, the University of California at San Francisco and maternal fetal medicine specialists at the Ottawa Hospital in Canada.
The team researched the use of enzyme replacement therapy in fetuses that had been identified with infantile-onset Pompe Disease.
The National Institute of Neurological Disorders and Stroke (NINDS) as a rare, inherited and often fatal disorder that disables the heart and skeletal muscles and is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).
According to a The New England Journal of Medicine report, the multinational team is the first in the world to provide enzyme replacement therapy in utero.
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