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Title: Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study
Authors: 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
Jaeken, Jaak
Frohn-Mulder, I M E
Merkus, P J F M
Corzo, D
Puga, A C
Reuser, A J
van der Ploeg, A T #
Issue Date: Dec-2010
Publisher: Pergamon Press
Series Title: Neuromuscular Disorders vol:20 issue:12 pages:775-82
Abstract: 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.
URI: 
ISSN: 0960-8966
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Brain & Metabolism Section (-)
Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

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