Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
作者： Dominique P Germain , Derralynn A Hughes , Kathleen Nicholls , Daniel G Bichet , Roberto Giugliani
关键词:
摘要: Background Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme trafficking to lysosomes. Methods The initial assay of mutant α-galactosidase forms that we used to categorize 67 patients with Fabry's disease for randomization to 6 months of double-blind migalastat or placebo (stage 1), followed by open-label migalastat from 6 to 12 months …
elsevier.com
sci-hub.se 参考文章(46)
Fan Jq, Germain Dp, Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies. International Journal of Clinical Pharmacology and Therapeutics. ,vol. 47, pp. 111- ,(2009)
Dennis A. Revicki, Martha Wood, Ingela Wiklund, Joseph Crawley, Reliability and validity of the gastrointestinal symptom rating scale in patients with gastroesophageal reflux disease Quality of Life Research. ,vol. 7, pp. 75- 83 ,(1997) , 10.1023/A:1008841022998
Jian-Qiang Fan, Satoshi Ishii, Naoki Asano, Yoshiyuki Suzuki, Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nature Medicine. ,vol. 5, pp. 112- 115 ,(1999) , 10.1038/4801
R J Desnick, H Sakuraba, M Shimmoto, D F Bishop, Y Suzuki, A Oshima, Y Fukuhara, Y Nagao, Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. American Journal of Human Genetics. ,vol. 47, pp. 784- 789 ,(1990)
Franklin K. Johnson, Paul N. Mudd, Alexander Bragat, Mathews Adera, Pol Boudes, Pharmacokinetics and Safety of Migalastat HCl and Effects on Agalsidase Activity in Healthy Volunteers Clinical pharmacology in drug development. ,vol. 2, pp. 120- 132 ,(2013) , 10.1002/CPDD.1
A. Pisani, B. Visciano, M. Imbriaco, A. Di Nuzzi, A. Mancini, C. Marchetiello, E. Riccio, The kidney in Fabry's disease Clinical Genetics. ,vol. 86, pp. 301- 309 ,(2014) , 10.1111/CGE.12386
Stephen Waldek, Sandro Feriozzi, Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy? BMC Nephrology. ,vol. 15, pp. 72- 72 ,(2014) , 10.1186/1471-2369-15-72
C. M. Eng, J. Fletcher, W. R. Wilcox, S. Waldek, C. R. Scott, D. O. Sillence, F. Breunig, J. Charrow, D. P. Germain, K. Nicholls, M. Banikazemi, Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. Journal of Inherited Metabolic Disease. ,vol. 30, pp. 184- 192 ,(2007) , 10.1007/S10545-007-0521-2
Christine M. Eng, Robert J. Desnick, Molecular basis of fabry disease: Mutations and polymorphisms in the human α‐galactosidase A gene Human Mutation. ,vol. 3, pp. 103- 111 ,(1994) , 10.1002/HUMU.1380030204
William R. Wilcox, Gabor E. Linthorst, Dominique P. Germain, Ulla Feldt-Rasmussen, Stephen Waldek, Susan M. Richards, Dana Beitner-Johnson, Marta Cizmarik, J. Alexander Cole, Wytske Kingma, David G. Warnock, Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry Molecular Genetics and Metabolism. ,vol. 105, pp. 443- 449 ,(2012) , 10.1016/J.YMGME.2011.12.006