Usefulness of alpha-glucosidase in pompe disease

PICHON-RIVIERE A,; AUGUSTOVSKI, F; ALCARAZ A; BARDACH, ARIEL; COLANTONIO, LISANDRO; FERRANTE, D; GARCIA MARTÍ, SEBASTIAN; GLUJOVSKY, D; LOPEZ, A; REGUEIRO, A; CALCAGNO, JI

Documentos de Evaluación de Tecnologías Sanitarias

IECS

Año: 2006 p. 1 - 30

1668-2793

This report aims to assess the evidence available on the usefulness of substitutive enzymatic treatment with alpha-glucosidase for Pompe disease.A search was performed on the main literature databases (MEDLINE, Cochrane, DARE, LILACS, NHS NICE, EMBASE, Trip Database), on general search engines, health technology assessment agencies and health sponsors. Priority was given to clinical trials.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.Considering as an example a patient whose weight is 10kg, the average annual price is around $145.000 (Argentine pesos, 2006).