A fifth of patients with late-onset Pompe disease identified through newborn screening developed symptoms after 15 years, according to a new study published in the Journal of Pediatrics.

“[Newborn screening] was found to facilitate the early detection and early treatment of those subjects,” the researchers said.

The study also found that although GAA variants c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] may not cause Pompe disease, they may still affect the function of skeletal muscles.

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To determine the outcome of patients with late-onset Pompe disease who were identified in newborn screening programs in Taiwan, a team of researchers led by Yin-Hsiu Chien MD, PhD, conducted a prospective observational cohort study from the beginning newborn screening for Pompe disease from 2005 to 2018.

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Identified patients were followed-up every 3 to 12 months and their motor development and biochemical markers were assessed. During this period, 994,975 newborns were screened. Of these, 39 had late-onset Pompe disease based on the level of acid α-glucosidase (GAA) activity in their body.

The patients did not have any cardiac involvement at the time of screening. Eight patients were treated with enzyme replacement therapy because they had a persistent elevation of creatine kinase in their blood as well as cardiac involvement or developmental delays.

Following treatment, the physical performance and endurance of all patients improved. Patients who had the c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] genotypes had nonprogressive hypotonia, muscle weakness, and impaired physical fitness tests. However, these patients did not receive treatment.

“This study highlights the importance of long-term follow-up of [newborn screening] data,” the researchers concluded. “Despite their association with muscle weakness, the correlation between Pompe disease and a few GAA variants will need further investigation.”


Lee NC, Chang KL, In ‘t Groen SLM, et al. Outcome of later-onset Pompe disease identified through newborn screening. J Pediatr. Published online January 4, 2022. doi:10.1016/j.jpeds.2021.12.072