Elosulfase alfa for mucopolysaccharidosis type IVA : Real-world experience in 7 patients from the Spanish Morquio-A early access program
Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Blasco Alonso, Javier (Hospital Regional Universitario de Málaga)
Couce, Maria Luz (Hospital Clínico Universitario (Santiago de Compostela, Galícia))
González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid))
Guillén-Navarro, Encarnación (IMIB - Arrixaca, Murcia)
O'Callaghan, Maria del Mar (Hospital Sant Joan de Déu (Barcelona, Catalunya))
Del Toro, Mireia (Hospital Universitari Vall d'Hebron)
Universitat Autònoma de Barcelona

Date:	2018
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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	MPS IVA ; Morquio A ; Lysosomal storage disorder ; Urinary GAGs ; Elosulfase alfa ; Quality of life
Published in:	Molecular Genetics and Metabolism Reports, Vol. 15 (april 2018) , p. 116-120, ISSN 2214-4269

DOI: 10.1016/j.ymgmr.2018.03.009
PMID: 30023300

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Articles > Research articles
Articles > Published articles