RT Journal Article
T1 Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
A1 Pintos Morell, Guillem
A1 Blasco Alonso, Javier
A1 Couce Pico, María Luz
A1 Gutiérrez Solana, Luís G.
A1 Guillén Navarro, Encarnación
A1 O'Callaghan, Mar
A1 Toro, Mireia del
K1 MPS IVA
K1 Morquio A
K1 Lysosomal storage disorder
K1 Urinary GAGs
K1 Elosulfase alfa
K1 Quality of life
AB There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfasealfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present theexperience of seven pediatric MPS-IVA patients from the Spanish Morquio-A Early Access Program. Efficacy wasevaluated 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 mea-sured, and a molecular analysis of a GALNS mutation was performed. The health-related quality of life wasevaluated 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 mafter 8 months with elosulfase alfa (the walked distance improved in all patients except one). An increase wasobserved for the two patients who had to use a wheelchair. Improvements were also observed for the 3-MSCT infour patients, whereas two patients showed no changes. Three patients showed an improvement in the EQ-VASscore, whereas the scores of three patients remained stable. Regarding urinary glycosaminoglycans measure-ments, an irregular response was observed. Our results showed overall improvement in endurance and func-tionality after 8 months of elosulfase alfa treatment in a heterogeneous subset of MPS IVA patients with severeclinical manifestations managed in a real-world setting.
PB Elsevier
SN 2214-4269
YR 2018
FD 2018
LK http://hdl.handle.net/10347/22582
UL http://hdl.handle.net/10347/22582
LA eng
NO Pintos-Morell, G., Blasco-Alonso, J., Couce, M., Gutiérrez-Solana, L., Guillén-Navarro, E., O'Callaghan, M. and 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, pp.116-120.
DS Minerva
RD 23 abr 2026