The early detection and initiation of enzyme replacement therapy (ERT) are critical for the management and care of pediatric patients with Pompe disease (PD), according to a review article published in Children.

Implementation of newborn screening (NBS) would help identify patients early and allow for the early implementation of ERT with alglucosidase alpha, a recombinant human acid alpha-glucosidase (rhGAA), which would be particularly impactful for patients with infantile-onset Pompe disease (IOPD), reported Jorge Sales Marques, of the Conde S. Januário Hospital, in Macau, China.

Early treatment with ERT can lead to normal physical growth and gains in motor development along with significant improvements in overall survival and ventilator-free survival for patients with IOPD.

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Although ERT is the primary method for managing PD, general care practices are essential. As a result, the management of PD requires the involvement of a multidisciplinary team of medical specialists, including nurses, occupational therapists, and cardiologists. There are some recommendations that these teams must follow, Marques noted.

“Practically, the implementation of NBS would facilitate early identification of the PD patients, whereas ERT with alglucosidase alpha has been demonstrated to control PD effectively with a favorable safety profile,” the author said.

For patients identified with classic IOPD, it is recommended to test for cross-reactive immunologic material (CRIM) status before the initiation of ERT. For CRIM-negative patients or CRIM-positive patients at high risk for immune reactions, ERT should be commenced in conjunction with immune tolerance induction to reduce the risk of developing resistance to rhGAA, the researcher continued.

In patients with late-onset Pompe disease (LOPD), it is recommended to start ERT in symptomatic patients. For asymptomatic patients, it is recommended to monitor the patients for the onset of proximal muscle weakness, a >10% drop in sitting-supine forced-vital capacity (FVC), or when muscle weakness is detected through directed examination at which point to initiate ERT, the author noted.

Patients receiving ERT should be monitored for the development of adverse events involving the skin and other organs as well as for severe allergic reactions. Immunoglobulin-G (IgG) levels should also be monitored every 3 months for the first 2 years and then annually to watch for the development of a reaction to treatment, Marques noted.

The efficacy of ERT should also be assessed regularly through manual muscle testing, sitting-supine FVC, 6-minute walk testing, quality of life measurements, audiology assessment, as well as creatine kinase and GAA antibody levels. ERT termination should be considered in cases where there is no relief of patient symptoms or disease progression, Marques added.


Marques JS. The clinical management of Pompe disease: a pediatric perspective. Children. 2022;9(9):1404. doi:10.3390/children9091404