Patients with late-onset Pompe disease (PD) who received enzyme replacement therapy (ERT) of alglucosidase alfa presented no adverse effects, however, showed varied responses to treatment, according to a retrospective observational study published in Medical Clinics.

The study included 22 individuals: 5 patients with late-onset PD, 6 with type C Niemann-pick disease, 8 with type 1 Gaucher disease, 2 with type 2 mucopolysaccharidosis, and 1 with type 4 mucopolysaccharidosis.

The authors aimed to study the effectiveness and safety profiles of ERT and substrate reduction therapy (SRT) in several lysosomal deposit diseases by using available clinical trials and treatment guidelines to select appropriate response criteria for each disease.

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The 5 patients with PD received 20 mg/kg of alglucosidase alfa every 2 weeks for approximately 5 years each. The selected effectivity variables were forced vital capacity (FVC), 6-Minute Walk Test (6MWT) scores, and muscular force on the Medical Research Council scale.

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None of the 5 patients with PD maintained or improved in all 3 variables. The FVC improved in 1 patient, was maintained in another, but worsened in the remaining 3. The 6MWT improved in only 1 patient, and only 2 patients maintained muscular force. No adverse effects to ERT in PD were reported in the study.

The authors note that treatment effectiveness and safety varied between the studied diseases.

“In Type I Gaucher diseases ERT proved to be effective, achieving a response in all patients, while in type II mucopolysaccharidosis treatment did not prevent disease progression,” the authors wrote. “In regards to safety, SRT was associated with adverse effects corrected by dosing adjustments.”

Because of the varied efficacy of the studied therapies and their high cost, the authors recommend creating evidence-based standardized protocols to guide decision-making regarding starting, monitoring, and terminating treatment in lysosomal deposit diseases.


Canales-Siguero D, García-Muñoz C, Quijada Fraile P, et al. Effectiveness and safety of the treatment of lysosomal deposit diseases: analysis of 22 patients. Med Clin. Published online June 2, 2022. doi:10.1016/j.medcli.2022.02.006