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, María L
A1 Gutiérrez-Solana, Luís G
A1 Guillén-Navarro, Encarna
A1 O'Callaghan, Mar
A1 Del Toro, Mireia
K1 Elosulfase alfa
K1 Lysosomal storage disorder
K1 MPS IVA
K1 Morquio A
K1 Quality of life
K1 Urinary GAGs
AB 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.
SN 2214-4269
YR 2018
FD 2018-04-05
LK https://hdl.handle.net/10668/27103
UL https://hdl.handle.net/10668/27103
LA en
DS RISalud
RD Apr 17, 2025