The heart and cardiovascular system in patients with Morquio syndrome type A

Kampmann, Christoph; Lampe, Christina; Reinke, Jörg; Mengel, Karl-Eugen; Gökce, Seyfullah; Beck, Michael; Kuroczynski, W.

doi:10.1016/j.ymgme.2013.12.127

Cited by 1 publication

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“…Cardiovascular involvement in MPS IVA patients can lead to early mortality. Thus, rapid intervention may be life-saving [ 33 ]. We did not find relevant changes in the echocardiograms after elosulfase alfa therapy.…”

Section: Discussionmentioning

confidence: 99%

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

Pintos-Morell

Blasco‐Alonso

Couce

et al. 2018

Molecular Genetics and Metabolism Reports

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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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Section: Discussionmentioning

confidence: 99%