Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.
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| 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.
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| Authors | C I van Capelle, N A M E van der Beek, M L C Hagemans, W F M Arts, W C J Hop, P Lee, J Jaeken, I M E Frohn-Mulder, P J F M Merkus, D Corzo, A C Puga, A J Reuser, A T van der Ploeg |
| Journal | Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 20 Issue 12 Pg. 775-82 (Dec 2010) ISSN: 1873-2364 [Electronic] England |
| PMID | 20817528 (Publication Type: Clinical Trial, Phase II, Journal Article, Research Support, Non-U.S. Gov't) |
| Copyright | Copyright © 2010 Elsevier B.V. All rights reserved. |
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