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. 2018 Apr 5:15:116-120.
doi: 10.1016/j.ymgmr.2018.03.009. eCollection 2018 Jun.

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

Guillem Pintos-Morell  1 , Javier Blasco-Alonso  2 , María L Couce  3 , Luís G Gutiérrez-Solana  4 , Encarna Guillén-Navarro  5 , Mar O'Callaghan  6 , Mireia Del Toro  7
Affiliations

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

Guillem Pintos-Morell et al. Mol Genet Metab Rep. .

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.

Keywords: Elosulfase alfa; Lysosomal storage disorder; MPS IVA; Morquio A; Quality of life; Urinary GAGs.

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Figures

Fig. 1
Fig. 1
Assessment of endurance according to the 6-min walking test (6-MWT) at baseline and after 8 months of elosulfase alfa therapy in the Morquio A Early Access Program (MOR-EAP). A 0 score was given to patients who did not walk.
Fig. 2
Fig. 2
Assessment of endurance according to the 3-min-stair-climb-test (3-MSCT) at baseline and after 8 months of elosulfase alfa therapy in the Morquio A Early Access Program (MOR-EAP). 3-MSCT: Results are given as stairs/min.
See this image and copyright information in PMC

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