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Enzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow up.
Neurol Neurochir Pol 2018; 52(4):465-469NN

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.

Authors+Show Affiliations

Ist Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland. Electronic address: 9greg@wp.pl.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.Ist Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.Ist Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29803406

Citation

Witkowski, Grzegorz, et al. "Enzymatic Replacement Therapy in Patients With Late-onset Pompe Disease - 6-Year Follow Up." Neurologia I Neurochirurgia Polska, vol. 52, no. 4, 2018, pp. 465-469.
Witkowski G, Konopko M, Rola R, et al. Enzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow up. Neurol Neurochir Pol. 2018;52(4):465-469.
Witkowski, G., Konopko, M., Rola, R., Ługowska, A., Ryglewicz, D., & Sienkiewicz-Jarosz, H. (2018). Enzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow up. Neurologia I Neurochirurgia Polska, 52(4), pp. 465-469. doi:10.1016/j.pjnns.2018.05.002.
Witkowski G, et al. Enzymatic Replacement Therapy in Patients With Late-onset Pompe Disease - 6-Year Follow Up. Neurol Neurochir Pol. 2018;52(4):465-469. PubMed PMID: 29803406.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Enzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow up. AU - Witkowski,Grzegorz, AU - Konopko,Magdalena, AU - Rola,Rafał, AU - Ługowska,Agnieszka, AU - Ryglewicz,Danuta, AU - Sienkiewicz-Jarosz,Halina, Y1 - 2018/05/17/ PY - 2018/02/14/received PY - 2018/04/29/revised PY - 2018/05/02/accepted PY - 2018/5/29/pubmed PY - 2019/5/24/medline PY - 2018/5/28/entrez KW - 6MWT KW - Enzyme replacement therapy KW - Follow-up KW - Pompe disease SP - 465 EP - 469 JF - Neurologia i neurochirurgia polska JO - Neurol. Neurochir. Pol. VL - 52 IS - 4 N2 - 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. SN - 0028-3843 UR - https://www.unboundmedicine.com/medline/citation/29803406/Enzymatic_replacement_therapy_in_patients_with_late_onset_Pompe_disease___6_Year_follow_up_ L2 - http://babysfirsttest.org/newborn-screening/conditions/pompe-disease DB - PRIME DP - Unbound Medicine ER -