| Autor: |
Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh, on behalf of the POM-001/002 Investigators |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
1750-1172 |
| DOI: |
10.1186/s13023-017-0693-2 |
| Popis: |
Abstract Background Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, a novel insulin-like growth factor 2 (IGF2)-tagged GAA analogue with improved lysosomal uptake, was developed. This study evaluated the pharmacokinetics, safety, and exploratory efficacy of reveglucosidase alfa in 22 subjects with late-onset Pompe disease who were previously untreated with rhGAA. Results Reveglucosidase alfa plasma concentrations increased linearly with dose, and the elimination half-life was |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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