Journal article

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study

Dominique P Germain, Kathy Nicholls, Roberto Giugliani, Daniel G Bichet, Derralynn A Hughes, Laura M Barisoni, Robert B Colvin, J Charles Jennette, Nina Skuban, Jeffrey P Castelli, Elfrida Benjamin, Jay A Barth, Christopher Viereck



PURPOSE: Outcomes in patients with Fabry disease receiving migalastat during the phase 3 FACETS trial (NCT00925301) were evaluated by phenotype. METHODS: Data were evaluated in two subgroups of patients with migalastat-amenable GLA variants: "classic phenotype" (n = 14; males with residual peripheral blood mononuclear cell α-galactosidase A <3% normal and multiorgan system involvement) and "other patients" (n = 36; males not meeting classic phenotype criteria and all females). Endpoints included estimated glomerular filtration rate (eGFR), left ventricular mass index (LVMi), Gastrointestinal Symptoms Rating Scale diarrhea subscale (GSRS-D), renal peritubular capillary (PTC) globotriaosylcera..

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Funding Acknowledgements

The authors thank the patients and clinical investigators who participated in the AT1001-011 study. The authors acknowledge Iulia E. Jurca-Simina for her contribution to data acquisition. Funding for the studies was provided by Amicus Therapeutics. Medical writing/editing support was provided by Sally Mitchell, Lei Bai, and Dana Francis of ApotheCom (Yardley, PA) and was funded by Amicus Therapeutics.