Avalglucosidase alfa has a positive clinical effect in patients with infantile-onset Pompe disease (IOPD) whose condition worsened while being treated with alglucosidase alfa. This is according to preliminary results from a phase 2 clinical trial published in Genetics in Medicine

The aim of the open-label, ascending dose trial was to evaluate the safety, efficacy, and pharmacokinetics of avalglucosidase alfa in patients with IOPD under the age of 18 years who were previously treated with alglucosidase alfa and declined clinically or had a suboptimal response to the treatment.

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During the trial, patients who experienced clinical decline received either 20 mg/kg (6 patients) or 40 mg/kg (5 patients) of avalglucosidase alfa every 2 weeks for 6 months. Patients who had a suboptimal response to alglucosidase alfa either continued on the same treatment (6 patients) or switched to 40 mg/kg of avalglucosidase alfa (5 patients) for 6 months.

The results showed that patients who received 40 mg/kg of avalglucosidase alfa showed a trend for better motor function at week 25 compared to those who received 20 mg/kg of avalglucosidase alfa or continued on alglucosidase alfa at a dose of up to 40 mg/kg.

None of the patients in the trial died, and none discontinued treatment. The percentage of patients who had a treatment-emergent adverse event was similar in all groups. There were no serious or severe treatment-related treatment-emergent adverse events in any group.

“These data support the positive clinical effect of avalglucosidase alfa in patients with infantile-onset Pompe disease previously declining on alglucosidase alfa,” the researchers concluded. 

Avalglucosidase alfa, marketed under the brand name Nexviazyme®, is a next-generation enzyme replacement therapy. It targets the mannose-6-phosphate receptor, the main pathway for enzyme replacement therapy, thereby clearing the buildup of glycogen in muscle cells. The treatment is already approved in the United States for the treatment of patients with late-onset Pompe disease.


Kishnani PS, Kronn D, Brassier A, et al; Mini-COMET Investigators. Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: the 6-month primary analysis report. Genet Med. Published online December 20, 2022. doi:10.1016/j.gim.2022.10.010