A team of researchers reported on their experiences and challenges with newborn screening for Pompe disease and showed contributions that may reduce diagnostic and treatment delays, as presented at the 18th Annual WorldSymposium 2022.

The researchers from the Children’s National Rare Disease Institute at the Children’s National Hospital in Washington, DC started their study in December 2017 to the present.

Over 350 referrals have been made to the Institute, and 16 infants were determined to be at risk of Pompe disease based on the results of molecular testing. Referred infants are examined and evaluated by physical therapy and cardiology along with laboratory testing.

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Most referrals are found to be unaffected despite presenting carrier status or psudodeficiency alleles. However, 2 of the referrals were prescribed enzyme replacement therapy based on laboratory findings and gross motor symptoms.

Follow-up and determining the need for follow-up was found to be difficult in patients with variants of uncertain significance, which they also found to be more common in nonwhite than in white patients.

Given these challenges and the fact that families report high levels of anxiety while awaiting test results and a confirmed diagnosis, even the 2 detections by newborn screening and their corresponding prescriptions of enzyme replacement therapy were seen as positive contributions to reducing diagnostic and treatment delays as well as family stress.


Grant C, Shaw A, Kuperman K. Newborn screening for Pompe disease: the Washington, DC experience. Mol Genet Metab. 2022;135(2). doi:10.1016/j.ymgme.2021.11.122