Very early enzyme replacement therapy (ERT) is associated with better outcomes in patients with Infantile-onset Pompe disease (PD), according to a new study.

This finding was based on a rapid diagnostic and treatment strategy adopted at Taipei Veterans General Hospital in Taiwan. The study results were published in the Journal of Medical Genetics.

The researchers conducted a long-term follow-up study in which they analyzed the outcomes of very early ERT in patients with Infantile-onset PD.


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Between January 1, 2010, and February 28, 2021, the researchers screened a total of 1,228,539 infants. Of these, 33 were confirmed to have Infantile-onset PD, and 26 were regularly treated and monitored at the same hospital. The average age of the patients when they started ERT was 9.75 days.

The patients were followed up for an average of 6.18 years. The researchers found that all patients had normal heart sizes, motor milestones, and cognitive function. Their lung function was near normal or normal. 

“Compared with patients in other studies, our patients had better outcomes in all aspects,” the researchers wrote. They also concluded that starting ERT before irreversible muscle damage has occurred is very important, underscoring the meaningfulness of newborn screening for PD.

PD is a rare genetic disease characterized by a deficiency or absence of the lysosomal acid alpha-glucosidase enzyme, whose role is to cleave glycogen to form glucose. There are 2 types of PD based on the age of onset and the presence of cardiomyopathy. Infantile-onset PD is the most severe form affecting babies, ages 0 to 12 months, while Late-onset PD is usually less severe with symptoms appearing after age 1. There is usually no cardiac involvement in Late-onset PD.

Reference

Yang C, Liao TE, Chu Y, et al. Long-term outcomes of very early treated infantile onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme. J Med Genet. Published online September 22, 2022. doi:10.1136/jmg-2022-108675