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 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.
|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|
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