Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

Guillem Pintos-Morell, Javier Blasco-Alonso, María L. Couce, Luís G. Gutiérrez-Solana, Encarna Guillén-Navarro, Mar O'Callaghan, Mireia del Toro

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Abstract

© 2018 The Authors 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.
Original languageEnglish
Pages (from-to)116-120
JournalMolecular Genetics and Metabolism Reports
Volume15
DOIs
Publication statusPublished - 1 Jun 2018

Keywords

  • Elosulfase alfa
  • Lysosomal storage disorder
  • MPS IVA
  • Morquio A
  • Quality of life
  • Urinary GAGs

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    Pintos-Morell, G., Blasco-Alonso, J., Couce, M. L., Gutiérrez-Solana, L. G., Guillén-Navarro, E., O'Callaghan, M., & del Toro, M. (2018). Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program. Molecular Genetics and Metabolism Reports, 15, 116-120. https://doi.org/10.1016/j.ymgmr.2018.03.009