Usefulness of alpha-glucosidase in pompe disease

Pichon Riviere A, Augustovski F, Alcaraz A, Bardach A, Colantonio L, Ferrante D, Garcia Marti S, Glujovsky D, Lopez A, Regueiro A, Calcagno J I
Record ID 32006001595
Authors' objectives:

This report aims to assess the evidence available on the usefulness of substitutive enzymatic treatment with alpha-glucosidase for Pompe disease.

Authors' results and conclusions: Five case series reports were found which included a total of 21 patients. All the studies were conclusive as regards survival improvement with 19 children having a longer life expectancy than the expected one year, with an average of one year follow-up. All the patients normalized LAAG activity. Motor improvement was variable but evident in all cases, with motility and cognitive improvement. As regards cardiac function, an improvement in the left ventricular mass index was observed in most children with disappearance of cardiac failure symptoms in all patients. The treatment was, in general, well tolerated. It seems that the patients that benefit the most are those who start enzyme replacement treatment early. Health technology assessments: A document published in 2002 by Birmingham University highlighted the fact that Pompe disease does not have treatment at present, and that enzyme replacement therapy is associated with an increase in survival. It also points out that the cost of this treatment is high with a significant economic impact.
Authors' recommendations: Enzyme replacement with alpha-glucosidase has proved to improve survival in patients with Pompe disease, although trials with longer follow-ups are needed. The studies found were all case series reports, because of the disease low prevalence. It is the first treatment available to alter the course of Pompe disease. However, its annual cost is frequently prohibitive for many societies.
Authors' methods: Overview
Project Status: Completed
URL for project:
Year Published: 2006
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Argentina
MeSH Terms
  • Costs and Cost Analysis
  • alpha-Glucosidases
Organisation Name: Institute for Clinical Effectiveness and Health Policy
Contact Address: Dr. Emilio Ravignani 2024, Buenos Aires - Argentina, C1414 CABA
Contact Name:
Contact Email:
Copyright: Institute for Clinical Effectiveness and Health Policy (IECS)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.