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https://hdl.handle.net/20.500.12530/40250
Title: | Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program. | |
Authors: | ||
Keywords: | ||
Issue Date: | Jun-2018 | |
Citation: | Mol Genet Metab Rep.2018 Jun;(15):116-120 | |
Abstract: | There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the experience of seven pediatric MPS-IVA patients from the Spanish Morquio-A Early Access Program. Efficacy was evaluated based on the distance walked in the 6-min walking test (6-MWT) and the 3-min-stair-climb-test (3-MSCT) at baseline and after 8 months of ERT treatment. Additionally, urinary glycosaminoglycans were measured, and a molecular analysis of a GALNS mutation was performed. The health-related quality of life was evaluated using the EuroQoL (EQ)-5D-5 L. The distance walked according to the 6-MWT ranged from 0 to 325 m at baseline and increased to 12-300 m after 8 months with elosulfase alfa (the walked distance improved in all patients except one). An increase was observed for the two patients who had to use a wheelchair. Improvements were also observed for the 3-MSCT in four patients, whereas two patients showed no changes. Three patients showed an improvement in the EQ-VAS score, whereas the scores of three patients remained stable. Regarding urinary glycosaminoglycans measurements, an irregular response was observed. Our results showed overall improvement in endurance and functionality after 8 months of elosulfase alfa treatment in a heterogeneous subset of MPS IVA patients with severe clinical manifestations managed in a real-world setting. | |
PMID: | 30023300 | |
URI: | https://hdl.handle.net/20.500.12530/40250 | |
Rights: | openAccess | |
ISSN: | 2214-4269 | |
Appears in Collections: | Fundaciones e Institutos de Investigación > FIB H. Infantil U. Niño Jesús > Artículos | |
Files in This Item:
File | Description | Size | Format | |
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PMC6047108.pdf | 250.55 kB | Adobe PDF | View/Open |
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