Pompe Pilot Project
Starting in July 2017, Wisconsin will begin screening for Pompe disease as part of a federally funded newborn screening pilot program.
The pilot is an outcome of a 2013 recommendation by the national Advisory Committee on Heritable Disorders in the Newborn and Child (ACHDNC) that Pompe screening be added to state newborn screening panels. As part of the implementation process, it was recommended that pilot studies be undertaken to understand the challenges to implementing this recommendation.
Wisconsin State Laboratory of Hygiene scientists, in conjunction with several pediatric metabolic physician specialists in the state, will be conducting Wisconsin’s Pompe newborn screening trial. The pilot is expected to last one year.
Pompe is a genetically inherited lysosomal storage disease. Children with Pompe have difficulty breaking down glycogen due to a defective alpha-glucosidase (GAA) enzyme; glycogen builds up in cells, particularly muscle cells, leading to poor muscle function. Pompe is a rare disorder, affecting about one in every 10,000-40,000 newborns. The severity of the disease can vary widely, but some affected infants will die in the first year of life if not treated. This is called the “classic infantile” form. In the “late onset” form of the disease, individuals may not become ill until later in childhood, or not until they are adults.
For more information, please see the following PDFs: