Patients with classic infantile-onset Pompe disease (IOPD) receiving a high dosage of alglucosidase alfa enzyme replacement therapy (ERT) had significantly improved survival rates compared to those receiving the standard dosage, according to an observational cohort study published in The Lancet Child & Adolescent Health. There was no significant difference in survival between the intermediate and high dosage groups.

Investigators studied data collected from 124 patients diagnosed with classic IOPD prior to 12 months of age between October 26, 1998, and March 8, 2019, in France, Italy, Germany, and the Netherlands on behalf of the European Pompe Consortium. Patients were divided into 3 groups based on their dosage of alglucosidase alfa: high dosage (40 mg/kg per week), intermediate dosage (20 mg/kg per week or 40 mg/kg every other week), and standard dosage (20 mg/kg every other week).

The researchers analyzed 2 primary outcomes: survival and walking ability. Of the 124 patients, 116 received ERT treatments, with a median age at treatment initiation of 3 months. Of these, 36 patients (31%) died during follow-up. A total of 64 patients were on consistent, unchanging dosage regimens, while the remaining patients received modified treatment regimens.

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Among the standard, intermediate, and high dosage groups, 16 of 31 (52%), 12 of 15 (80%), and 16 of 18 (89%) patients survived until the last follow-up, respectively. After analyzing these outcomes, the researchers suggested increasing the recommended standard dosage.

Of the 86 patients who survived to 18 months of age, only 44 (51%) learned how to walk. The researchers did not observe a statistically significant difference between dosage groups for this outcome. However, 10 of 19 patients (53%) on the standard dosage, 6 of 9 (67%) on the intermediate dosage, and 14 of 15 (93%) on the higher dosage learned to walk.

In describing the limitations of the study, the authors wrote that “although we present the largest population of patients with classic infantile Pompe disease studied to date, our study population was not large enough to perform Cox regression with multiple additional coefficients such as [cross-reactive immunological material] status . . . [which] was not evenly distributed across the different treatment groups.”


Ditters IAM, Huidekoper HH, Kruijshaar ME, et al. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. Lancet Child Adolesc Health. Published online November 22, 2021. doi:10.1016/S2352-4642(21)00308-4