| Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. | |
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MedLine Citation:
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PMID: 21550241 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Pompe disease is a rare metabolic myopathy caused by lysosomal α-glucosidase deficiency. Pompe disease ranges from a rapidly progressive course when symptoms present in infancy to a more slowly progressive rate when symptoms present in childhood or adulthood. This open-label prospective exploratory study investigated the effect of 12months of recombinant enzyme replacement therapy in 5 adult patients who had already advanced to a very severe stage of Pompe disease. Muscular and respiratory function, quantitative muscle testing and spirometry were assessed. Four patients were tracheostomized. Respiratory parameters did not deteriorate. A moderate improvement in sitting/supine slow vital capacity in 2 patients (from 7% to 11% and 28% to 32% of predicted) and reductions of ventilation support in 2 patients was observed. Three patients, wheelchair bound at baseline, improved sitting and proximal motor function; 2 patients improved in their ability to stand and transfer. The treatment was well tolerated. Alglucosidase alfa may stabilize or even slightly improve muscle strength and respiratory function among patients with severe Pompe disease. |
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Authors:
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David Orlikowski; Nadine Pellegrini; Hélène Prigent; Pascal Laforêt; Robert Carlier; Pierre Carlier; Bruno Eymard; Frédéric Lofaso; Djillali Annane |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-5-5 |
Journal Detail:
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Title: Neuromuscular disorders : NMD Volume: - ISSN: 1873-2364 ISO Abbreviation: - Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-5-9 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9111470 Medline TA: Neuromuscul Disord Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Elsevier B.V. All rights reserved. |
Affiliation:
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Medical Intensive Care Unit, Raymond Poincaré Teaching Hospital, Garches, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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