Effect of enzyme therapy in juvenile patients with Pompe disease A three-year open-label study

Pompe disease is a rare neuromuscular disorder caused by deficiency of acid alpha glucosidase Treatment with recombinant human alpha-glucosidase recently received marketing approval based on prolonged sur vival of affected infants The current open-label study was performed to evaluate the response in older children (age 5 9-15 2 years) The five patients that we studied had limb-girdle muscle weakness and three of them also had decreased pulmonary function in upright and supine position They received 20-mg/kg recombinant human alpha-glucosidase every two weeks over a 3-year period No infusion-associated reactions were observed Pulmonary function tern lined stable (n = 4) or Improved slightly (n = 1) Muscle strength Increased Only one patient approached the normal range Patients obtained higher scores on the Quick Motor Function Test None of the patients deteriorated Follow-up data of two unmatched historical cohorts of adults and children with Pompe disease were used for comparison They showed an average decline in pulmonary function of 1 6% and 5% per year Data on muscle strength and function of untreated children were not available Further studies are required (C) 2010 Elsevier B V All rights reserved