Patients with Pompe disease, who were under 2 years of age and treated with alglucosidase alfa produced at a 4000 L scale, surpassed minimal detectable change estimates in gross motor function as measured by Gross Motor Function Measure-88 (GMFM-88) after 52 weeks, according to a new study published in the Journal of Neuromuscular Diseases. However, patients, over 2 years of age did not achieve this outcome.

“These first GMFM-88 minimal-detectable-change estimates for alglucosidase alfa-treated Pompe disease offer utility for monitoring motor skills,” the study authors concluded.

These findings are based on results from a phase 4 clinical trial sponsored by Genzyme that evaluate the safety and efficacy of alglucosidase alfa produced at the 4000 L scale for patients with Pompe disease. 

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The trial “presented an opportunity to obtain a more nuanced understanding of motor function changes in treatment-experienced children with Pompe disease,” the researchers wrote. 

To estimate the minimal detectable change and effect size on gross motor function after 52 weeks of 4000 L alglucosidase alfa, researchers analyzed the mean total percent score changes in GMFM-88, the minimal detectable change, and the effect size of participants.

They found that in participants 2 years of age or younger improvements surpassed the minimal-detectable-change whether they were walkers, supported standers, or sitters. This was not the case for patients of any ability who were 2 years of age and above. Age-independent minimal-detectable-change ranges were only attained by walkers and sitters.

Alglucosidase alfa marketed, under the brand name Lumizyme,® is an enzyme replacement therapy for patients with Pompe disease. It consists of a hydrolytic lysosomal glycogen-specific enzyme to replace acid alpha-glucosidase, which is missing or deficient in patients with Pompe disease. It can be produced at a 160 L scale or a 4000 L scale.


Duong T, Kishnani PS, An Haack K, et al. Pompe ADVANCE Study Consortium. Motor responses in pediatric Pompe disease in the ADVANCE participant cohort. J Neuromuscul Dis. Published online October 3, 2022. doi:10.3233/JND-210784