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Enzymatic replacement therapy in patients with late-onset Pompe disease – 6-Year follow up
Affiliations- Ist Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland
- Department of Neurology, Military Institute of Aviation Medicine, Warsaw, Poland
- Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
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Abstract
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.
MethodsFive 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.
ResultsThe 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.
ConclusionThe 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
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.
MethodsFive 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.
ResultsThe 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.
ConclusionThe 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.
Keywords
Pompe disease, Enzyme replacement therapy, Follow-up, 6MWT
About this articleTitle
Enzymatic replacement therapy in patients with late-onset Pompe disease – 6-Year follow up
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
465-469
Published online
2018-05-17
Page views
286
Article views/downloads
433
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
