Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry's disease
| Autor: | Robert J. Desnick, Dominique P. Germain, Nathalie Guffon, William R. Wilcox, Christine M. Eng, S. Waldek, Gabor E. Linthorst, Philip J. Lee, Louis R. Caplan |
|---|---|
| Přispěvatelé: | Faculteit der Geneeskunde, Other departments |
| Rok vydání: | 2001 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Globotriaosylceramide Urology Kidney 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Double-Blind Method Migalastat Internal medicine medicine Humans Pain Measurement Skin 030304 developmental biology 0303 health sciences Alpha-galactosidase biology Vascular disease business.industry Microcirculation Myocardium Trihexosylceramides General Medicine Enzyme replacement therapy Middle Aged medicine.disease Fabry's disease Fabry disease Capillaries 3. Good health Endocrinology medicine.anatomical_structure chemistry alpha-Galactosidase Quality of Life biology.protein Fabry Disease Female Endothelium Vascular business 030217 neurology & neurosurgery |
| Zdroj: | The New England journal of medicine, 345, 9-16. Massachussetts Medical Society New England journal of medicine, 345(1), 9-16. Massachussetts Medical Society |
| ISSN: | 1533-4406 0028-4793 |
| Popis: | Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected patients have microvascular disease of the kidneys, heart, and brain. We evaluated the safety and effectiveness of recombinant alpha-galactosidase A in a multicenter, randomized, placebo-controlled, double-blind study of 58 patients who were treated every 2 weeks for 20 weeks. Thereafter, all patients received recombinant alpha-galactosidase A in an open-label extension study. The primary efficacy end point was the percentage of patients in whom renal microvascular endothelial deposits of globotriaosylceramide were cleared (reduced to normal or near-normal levels). We also evaluated the histologic clearance of microvascular endothelial deposits of globotriaosylceramide in the endomyocardium and skin, as well as changes in the level of pain and the quality of life. In the double-blind study, 20 of the 29 patients in the recombinant alpha-galactosidase A group (69 percent) had no microvascular endothelial deposits of globotriaosylceramide after 20 weeks, as compared with none of the 29 patients in the placebo group (P |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|