Pompe disease is a rare neuromuscular disorder caused by deficiency of acid α-glucosidase. Treatment with recombinant human α-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 α-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.

Additional Metadata
Keywords Enzyme Replacement Therapy, Glycogen storage disease type II, Lysosomal storage diseases, Neuromuscular disorders, Pediatric, Pompe disease
Persistent URL dx.doi.org/10.1016/j.nmd.2010.07.277, hdl.handle.net/1765/28113
Journal Neuromuscular Disorders
van Capelle, C.I, van der Beek, N.A.M.E, Hagemans, M.L.C, Arts, W.F.M, Hop, W.C.J, Lee, P, … van der Ploeg, A.T. (2010). Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study. Neuromuscular Disorders, 20(12), 775–782. doi:10.1016/j.nmd.2010.07.277