T.P.20

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 clinical course of LOPD. In this study, we have evaluated the efficacy and adverse events of ERT for 60 weeks in Korean LOPD patients. Five Korean LOPD patients were included in the study. At baseline, clinical and laboratory features including motor and pulmonary function was assessed, and rhGAA was infused every two weeks. Then, patients were examined at every 12 weeks interval to evaluate their changes in motor and pulmonary function for 48 weeks along with adverse reactions of ERT. The motor and pulmonary function of the patients demonstrated mild improvement or stabilization after 60 weeks of ERT. And none of them showed deterioration in their ambulatory or respiratory status. One of our patients developed a serious anaphylactic reaction which necessitated the cessation of further ERT. This is the first report of clinical study on the ERT of Korean LOPD patients. Our study showed ERT for 48 weeks produced only mild improvement or stabilization of motor and pulmonary function in LOPD patients, suggesting that advanced pathological change is responsible for the limited efficacy of ERT.