open access

Vol 52, No 4 (2018)
Original research articles
Submitted: 2018-02-14
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Enzymatic replacement therapy in patients with late-onset Pompe disease – 6-Year follow up

Grzegorz Witkowski, Magdalena Konopko, Rafał Rola, Agnieszka Ługowska, Danuta Ryglewicz, Halina Sienkiewicz-Jarosz
DOI: 10.1016/j.pjnns.2018.05.002
·
Neurol Neurochir Pol 2018;52(4):465-469.

open access

Vol 52, No 4 (2018)
Original research articles
Submitted: 2018-02-14

Abstract

Introduction

Late-onset Pompe disease (LOPD) is a progressive metabolic myopathy, affecting skeletal muscles, which, if untreated, leads to disability and/or respiratory failure. The enzyme replacement therapy (ERT) improves muscle strength and respiratory function and prevents disease progression. We present a 6-year follow-up of 5 patients with LOPD treated with ERT.

Methods

Five patients with LOPD received ERT: two started treatment in 2008, other two in 2010 and one in 2011. All patients received recombinant human alpha-glucosidase in dose 20mg/kg intravenously every two weeks. Physical performance was assessed in 6-minute walk test (6MWT) and spirometry was performed to examine FVC and FEV1. Liver enzymes, CK levels were also assessed.

Results

The walking distance in 6MWT increased by average 16.9±2.26% in the first three years of treatment. Similar changes were detected in spirometry: the most significant FVC increase was observed in two patients with the highest FVC values before treatment, which increased to normal values adjusted for age and sex in three years of treatment, that is by 28% and 34%. In two other patients FVC reached 88% and 76% of predicted values. ERT also improved the liver and muscle enzymes levels.

Conclusion

The improvements of exercise tolerance and FVC were observed in all patients in the first three years of treatment and were the most pronounced in the longest-treated patients and with the least severe neurological and respiratory symptoms. Our research suggests that early start of the ERT results in higher improvement of respiratory and ambulation functions.

Abstract

Introduction

Late-onset Pompe disease (LOPD) is a progressive metabolic myopathy, affecting skeletal muscles, which, if untreated, leads to disability and/or respiratory failure. The enzyme replacement therapy (ERT) improves muscle strength and respiratory function and prevents disease progression. We present a 6-year follow-up of 5 patients with LOPD treated with ERT.

Methods

Five patients with LOPD received ERT: two started treatment in 2008, other two in 2010 and one in 2011. All patients received recombinant human alpha-glucosidase in dose 20mg/kg intravenously every two weeks. Physical performance was assessed in 6-minute walk test (6MWT) and spirometry was performed to examine FVC and FEV1. Liver enzymes, CK levels were also assessed.

Results

The walking distance in 6MWT increased by average 16.9±2.26% in the first three years of treatment. Similar changes were detected in spirometry: the most significant FVC increase was observed in two patients with the highest FVC values before treatment, which increased to normal values adjusted for age and sex in three years of treatment, that is by 28% and 34%. In two other patients FVC reached 88% and 76% of predicted values. ERT also improved the liver and muscle enzymes levels.

Conclusion

The improvements of exercise tolerance and FVC were observed in all patients in the first three years of treatment and were the most pronounced in the longest-treated patients and with the least severe neurological and respiratory symptoms. Our research suggests that early start of the ERT results in higher improvement of respiratory and ambulation functions.

Get Citation

Keywords

Pompe disease, Enzyme replacement therapy, Follow-up, 6MWT

About this article
Title

Enzymatic replacement therapy in patients with late-onset Pompe disease – 6-Year follow up

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 52, No 4 (2018)

Pages

465-469

DOI

10.1016/j.pjnns.2018.05.002

Bibliographic record

Neurol Neurochir Pol 2018;52(4):465-469.

Keywords

Pompe disease
Enzyme replacement therapy
Follow-up
6MWT

Authors

Grzegorz Witkowski
Magdalena Konopko
Rafał Rola
Agnieszka Ługowska
Danuta Ryglewicz
Halina Sienkiewicz-Jarosz

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