Pompe disease is a rare disease, in which therapies are aimed at improving the function of the heart and skeletal muscles, and the quality of life of patients. This review aims to update and evaluate the safety and efficacy of alpha-alglucosidase therapy for treating Pompe disease.

We performed a literature search of Medline, EMBASE, the Center for Reviews and Dissemination, the Latin American and Caribbean Health Sciences Literature, and Cochrane. Publications of the National Institute for Health and Care Excellence and national and international guidelines have been consulted. The quality of the evidence was assessed using the criteria of the Grading of Recommendations Assessment, Development and Evaluation - GRADE. We performed annual cost estimates of alpha-alglucosidase for the treatment of adult and pediatric patients.

In a randomized clinical trial comparing alpha-alglucosidase enzyme replacement therapy (20 mg / kg) with placebo for 78 weeks, the results favored alpha-alglucosidase (an increase of 28.1 ± 13.1 m in the six minute walk and an absolute increase of 3.4 ± 1.2 percent in forced vital capacity, p = 0.03 and p = 0.006, respectively). In another systematic review, it was observed that patients treated with alpha-alglucosidase had a mortality rate five times lower than untreated patients (rate ratio = 0.21, 95% CI: 0.11 − 0.41). In a pediatric population with advanced disease, biweekly infusions prolonged survival and survival free of invasive ventilation. The quality of the evidence was classified as very low. The annual treatment costs were USD 296,187.64 (adult patient with 70 kg) and USD 42,312.52 (pediatric patient with 10 kg).

The limited available evidence suggests alpha-algalsidase is efficacious in Pompe disease patients with some clinical conditions who do not present negative cross-reactive immune material. The balance between the limited quality of the evidence and the demonstrated benefits is favorable, especially for clinical improvement, reduction of mortality and intangible benefits.