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Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up

Authors
 Jin Sung Park  ;  Hye Gyung Kim  ;  Dae Seong Kim  ;  Young Chul Choi  ;  Jin Hong Shin 
Citation
 NEUROLOGICAL SCIENCES, Vol.36(4) : 599-605, 2015 
Journal Title
NEUROLOGICAL SCIENCES
ISSN
 1590-1874 
Issue Date
2015
MeSH
Adult ; Blood Glucose ; Child ; Creatine Kinase/blood ; Enzyme Replacement Therapy* ; Female ; Follow-Up Studies ; Glucan 1,4-alpha-Glucosidase/therapeutic use* ; Glycogen Storage Disease Type II/therapy* ; Humans ; Male ; Motor Activity/drug effects ; Motor Activity/physiology ; Pilot Projects ; Retrospective Studies
Keywords
Late-onset Pompe disease ; Korean ; Enzyme replacement therapy ; Acid glucosidase alfa ; Adverse event ; Anaphylaxis
Abstract
Late-onset Pompe disease (LOPD) is an autosomal recessive disorder caused by deficiency of the enzyme acid glucosidase alfa (GAA). Recently, enzyme replacement therapy (ERT) using recombinant human GAA (rhGAA) became clinically available, and is expected to modify the clinical course in LOPD of various stages. In this study, we evaluated the efficacy and adverse events of ERT for 48 weeks in Korean LOPD patients. Five Korean LOPD patients were included in the study. At baseline, clinical and laboratory features, including muscular and pulmonary function, were assessed, and rhGAA was infused every 2 weeks. Then, patients were examined at every 12-week interval for evaluation of changes in motor and pulmonary function for 48 weeks along with adverse reactions to ERT. The muscular and pulmonary function of the patients varied depending on the baseline condition of the patient after 48 weeks of ERT. However, the overall function of the patients showed stabilization of the disease rather than the improvement seen in infantile-onset Pompe disease. This is the first clinical study on ERT of Korean LOPD patients. Results of our study showed stabilization of muscular and pulmonary function in LOPD patients for 48 weeks with a favorable prognosis for patients who received early diagnosis and ambulatory patients. One of our patients developed a serious anaphylactic reaction, which necessitated the cessation of further ERT. Therefore, our study shows that early diagnosis and ERT are important in preventing further deterioration of the disease.
Full Text
http://link.springer.com/article/10.1007/s10072-014-2000-5
DOI
10.1007/s10072-014-2000-5
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/139115
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