caa a22 4500 467933537 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0361-5 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0361-5 Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease [Elektronische Daten] [Gregory Bierer, David Balfe, William Wilcox, Zab Mosenifar] Summary: Background. Fabry disease is an X-linked genetic disorder resulting in the accumulation of glycosphingolipids in various organs, leading to exercise intolerance and early mortality. Enzyme replacement therapy (ERT) has recently been approved for use in Fabry patients. Goals of study. To assess baseline cardiopulmonary exercise characteristics in both invasive and noninvasive tests and to study the impact of ERT on exercise. Methods. A total of 15 patients with Fabry disease underwent baseline cardiopulmonary exercise tests. Six patients were randomized 2:1 to receive either ERT or placebo. We performed serial cardiopulmonary exercise tests at baseline and every 3 months over a period of at least 18 months. The baseline test was compared to the last two exercise tests for each patient. Results. Mean age was 32 years. Mean VO2 max was 1.680 ± 0.67 L/min and increased by 0.459 ± 0.64 L/min in the patients receiving ERT. Mean VO2 max was 1.462 ± 0.25 L/min and decreased by 0.116 ± 0.44 L/min in patients on placebo. Mean oxygen pulse (VO2/HR) increased by 1.71 with enzyme, but increased only 0.025 in patients taking placebo. Estimated stroke volume (SV) increased by 10 ml in patients on ERT. Conclusions. In this small cohort, exercise tolerance increased in patients receiving enzyme replacement therapy. Cardiopulmonary exercise testing is a useful test in measuring the response to therapy in Fabry disease patients. SSIEM and Springer, 2006 Bierer Gregory Division of Pulmonary/Critical Care Medicine, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA aut Balfe David Department of Internal Medicine, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA aut Wilcox William Division of Medical Genetics, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA aut Mosenifar Zab Department of Pediatrics, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 572-579 0141-8955 29:4<572 2006 29 10545 https://doi.org/10.1007/s10545-006-0361-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0361-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bierer Gregory Division of Pulmonary/Critical Care Medicine, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA aut NATIONALLICENCE 700 1- Balfe David Department of Internal Medicine, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA aut NATIONALLICENCE 700 1- Wilcox William Division of Medical Genetics, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA aut NATIONALLICENCE 700 1- Mosenifar Zab Department of Pediatrics, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 572-579 0141-8955 29:4<572 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer