Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry

作者：Watt Torquil; Burlina Alessandro P; Cazzorla Chiara; Schoenfeld Dorothee; Banikazemi Maryam; Hopkin Robert J; Martins Ana Maria; Sims Katherine; Beitner Johnson Dana; O'Brien Fanny; Feldt Rasmussen Ulla^*

来源：Genetics in Medicine, 2010, 12(11): 703-712.

DOI：10.1097/GIM.0b013e3181f13a4a

• lysosomal storage disease
• alpha galactosidase A deficiency
• SF-36 (R) Health Survey
• enzyme replacement therapy
• health status indicator

Purpose: To evaluate the effect of agalsidase beta on longitudinal health-related quality of life in patients with Fabry disease. Methods: The SF-36 (R) Health Survey was used to measure health-related quality of life in Fabry Registry patients. Seventy-one men and 59 women who were treated with agalsidase beta (median dose: 1.0 mg/kg/2 weeks) and who had baseline and at least 2 yearly posttreatment health-related quality of life measurements were included in these analyses. A repeated measures model was used to analyze change in score from baseline. Results: Men improved in the physical component summary and in all eight scales of the SF-36 after 1 and 2 years and in the mental component summary after 1 year of agalsidase beta treatment (P < 0.05). Women improved in the mental component summary and in six of the eight scales after 1 and/or 2 years of treatment. Patients whose baseline SF-36 scores were below the median showed the greatest improvements. These responses were comparable with or greater than the published effects of various treatments for multiple sclerosis, rheumatoid arthritis, central neuropathic pain, and Gaucher disease. Conclusion: Long-term treatment with agalsidase beta resulted in substantial improvements in health-related quality of life in both men and women; the effect was more pronounced in men. Genet Med 2010:12(11):703 712.

• 出版日期2010-11