Capelle, C.I. vanBeek, N.A. van derHagemans, M.L.Arts, W.F.M.Hop, W.C.J.Lee, P.Jaeken, J.Frohn-Mulder, I.M.Merkus, P.J.F.M.Corzo, D.Puga, A.C.Reuser, A.J.J.Ploeg, A.T. van derhttp://repository.ubn.ru.nl/handle/2066/88739nulljournalArticle0960-8966Pompe 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 survival 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 remained 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.2010 0960-8966 urn:nbn:nl:ui:22-2066/88739 20 775 782