Elosulfase Alfa for Mucopolysaccharidosis Type IVA: Real-world Experience in 7 Patients from the Spanish Morquio-A Early Access Program

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2018 Jul 20

PMID 30023300

Citations 10

Authors

Guillem Pintos-Morell

Javier Blasco-Alonso

Maria L Couce

Luis G Gutierrez-Solana

Encarna Guillen-Navarro

Mar OCallaghan

Mireia Del Toro

Affiliations

Soon will be listed here.

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.

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