The US Secretary of Health and Human Services recently added Pompe disease to the federal Recommended Uniform Screening Panel. Pompe disease can be identified using the traditional newborn screening dried bloodspot and this early identification will lead to earlier treatment.
What is Pompe disease?
Pompe disease is a rare inherited disorder that causes progressive muscle weakness. It is due to changes in the gene that produces an enzyme called GAA. This enzyme is responsible for breaking down sugars. Infants and children with Pompe disease cannot produce GAA. Therefore sugars accumulate in the muscles, and this causes the muscles to get weaker and not work the way they should. This muscle weakness affects feeding, weight gain, movement, and even the heart. Pompe disease occurs in about 1 in 28,000 people in the U.S.
Infants with Pompe disease can seem healthy at first, but without early medical intervention, the disease will progress rapidly. Many children with Pompe disease do not survive past the first year of life. However, research has shown that early detection and treatment of Pompe disease can lead to better outcomes.
Treatments, including enzyme replacement therapy (ERT), can lead to a longer life and fewer disease complications. But for ERT to be most effective, it must be started before the onset of severe symptoms. Research suggests that the success rate of ERT for Pompe disease is higher if a newborn can receive treatment within the first three months of life.
The March of Dimes supports screening all newborns for conditions placed on the Recommended Uniform Screening Panel. All the conditions included on the Uniform Screening Panel have shown that an affected infant benefits from early detection and treatment; there is a reliable screening test for the disorder; and early detection can be made from newborn bloodspots or other means.