The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease.

摘要

BACKGROUND: Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A (alpha-Gal A), encoded by the GLA gene. The deficiency causes accumulation of neutral glycosphingolipids in various tissues, leading to neuronopathic pain, progressive renal dysfunction, cardiomyopathy and stroke. Enzyme replacement therapy (ERT) with agalsidase alfa (Replagal, Shire Human Genetic Therapies) is approved for use by 40 countries, but not the US. OBJECTIVE: To evaluate agalsidase alfa in therapy of Fabry disease. METHODS: An examination of relevant reports. RESULTS/CONCLUSIONS: Clinical trials data, along with experience of the treatment collected through participation of treating physicians in a world-wide Fabry disease registry, have demonstrated that it improves pain and stabilizes renal function, as well as cardiomyopathy, in some patients. More data are needed to evaluate the role of treatment with this drug in the prevention of stroke and adverse cardiac events, and its overall effect on the lifespan and quality of life of affected individuals.