Newborn Screening: Pompe Disease – Nomination Process
Pompe Disease is a rare (approximately 1 in 40,000 births), inherited condition. It is considered a lysosomal storage disorder because people with Pompe have lysosomes (the recycling center of each cell) that cannot break down certain types of complex sugars. Pompe Disease is caused by mutations in a gene that makes an enzyme called acid alpha-1, 4-glugosidase (GAA) or acid maltase. Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. The GAA gene is responsible for making this enzyme. Without the proper function of GAA, glycogen that enters into the lysosome is not broken down, but continues to build up and disrupts the functioning of cells. Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.
The Wisconsin Newborn Screening (NBS) Program received a nomination submitted by Michael and Stephanie Clubb on August 26, 2019, for the nomination of Pompe Disease. The Metabolic Subcommittee considered the nomination during a meeting on September 6, 2019, and recommended adding Pompe Disease to the Wisconsin NBS panel. The subcommittee forwarded their recommendation to the Umbrella Committee.
The NBS Umbrella Committee considered the nomination during a meeting on December 6, 2019, and recommended adding Pompe Disease to the NBS panel of conditions. The Umbrella Committee forwarded their recommendation to the Secretary's Advisory Committee on Newborn Screening (SACNBS).
The SACNBS considered the nomination on March 6, 2020, and forwarded a recommendation report (PDF) to the Secretary of the Department of Health Services in support of adding Pompe Disease to the NBS panel of conditions.
The Secretary has approved the recommendation to add Pompe Disease to the NBS panel of conditions.
If you have questions about the Pompe Disease nomination process, please contact the Newborn Screening Program.