Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

被引:78
作者
van Capelle, C. I. [1 ,5 ]
Winkel, L. P. F. [1 ]
Hagemans, M. L. C. [1 ]
Shapira, S. K. [2 ]
Arts, W. F. M. [3 ]
van Doorn, P. A. [6 ]
Hop, W. C. J. [4 ]
Reuser, A. J. J. [5 ]
van der Ploeg, A. T. [1 ]
机构
[1] Erasmus MC Univ, Med Ctr, Sophia Childrens Hosp, Div Metab Dis & Genet,Dept Pediat, NL-3000 CB Rotterdam, Netherlands
[2] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Pediat Genet Team, Atlanta, GA USA
[3] Sophia Childrens Univ Hosp, Erasmus MC, Dept Pediat Neurol, Rotterdam, Netherlands
[4] Erasmus MC, Dept Epidemiol & Biostat, Rotterdam, Netherlands
[5] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands
[6] Erasmus MC, Dept Neurol, Rotterdam, Netherlands
关键词
Pompe disease; acid maltase deficiency; glycogenosis type 2; enzyme replacement therapy;
D O I
10.1016/j.nmd.2008.04.009
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Pompe disease (type 2 glycogenosis, acid maltase deficiency) is a disorder affecting skeletal and cardiac muscle, caused by deficiency of acid alpha-glucosidase. In 2006 enzyme therapy with recombinant human alpha-glucosidase received marketing approval based on studies in infants. Results in older children and adults are awaited. Earlier we reported on the 3-year follow-up data of enzyme therapy in two adolescents and one adult. In the present study these patients were followed for another 5 years. Two severely affected patients, wheelchair and ventilator dependent, who had shown stabilization of pulmonary and muscle function in the first 3 years, maintained this stabilization over the 5-year extension period. In addition patients became more independent in daily life activities and quality of life improved. The third moderately affected patient had shown a remarkable improvement in muscle strength and regained the ability to walk over the first period. He showed further improvement of strength and reached normal values for age during the extension phase. The results indicate that both long-term follow-up and timing of treatment are important topics for future studies. (C) 2008 Elsevier B.V. All rights reserved.
引用
收藏
页码:447 / 452
页数:6
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