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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.

Publication ,  Journal Article
Germain, DP; Nicholls, K; Giugliani, R; Bichet, DG; Hughes, DA; Barisoni, LM; Colvin, RB; Jennette, JC; Skuban, N; Castelli, JP; Benjamin, E ...
Published in: Genet Med
September 2019

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) globotriaosylceramide (GL-3) inclusions, and plasma globotriaosylsphingosine (lyso-Gb3). RESULTS: Baseline measures in the classic phenotype patients suggested a more severe phenotype. At month 24, mean (SD) annualized change in eGFRCKD-EPI with migalastat was -0.3 (3.76) mL/min/1.73 m2 in the classic phenotype subgroup; changes in LVMi, GSRS-D, and lyso-Gb3 were -16.7 (18.64) g/m2, -0.9 (1.66), and -36.8 (35.78) nmol/L, respectively. At month 6, mean PTC GL-3 inclusions decreased with migalastat (-0.8) and increased with placebo (0.3); switching from placebo to migalastat, PTC inclusions decreased by -0.7. Numerically smaller changes in these endpoints were observed in the other patients. CONCLUSION: Migalastat provided clinical benefit to patients with Fabry disease and amenable variants, regardless of disease severity.

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Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

September 2019

Volume

21

Issue

9

Start / End Page

1987 / 1997

Location

United States

Related Subject Headings

  • alpha-Galactosidase
  • Young Adult
  • Precision Medicine
  • Pharmacogenetics
  • Mutation
  • Middle Aged
  • Male
  • Leukocytes, Mononuclear
  • Kidney
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Germain, D. P., Nicholls, K., Giugliani, R., Bichet, D. G., Hughes, D. A., Barisoni, L. M., … Viereck, C. (2019). 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. Genet Med, 21(9), 1987–1997. https://doi.org/10.1038/s41436-019-0451-z
Germain, Dominique P., Kathy Nicholls, Roberto Giugliani, Daniel G. Bichet, Derralynn A. Hughes, Laura M. Barisoni, Robert B. Colvin, et al. “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.Genet Med 21, no. 9 (September 2019): 1987–97. https://doi.org/10.1038/s41436-019-0451-z.
Germain DP, Nicholls K, Giugliani R, Bichet DG, Hughes DA, Barisoni LM, Colvin RB, Jennette JC, Skuban N, Castelli JP, Benjamin E, Barth JA, Viereck C. 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. Genet Med. 2019 Sep;21(9):1987–1997.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

September 2019

Volume

21

Issue

9

Start / End Page

1987 / 1997

Location

United States

Related Subject Headings

  • alpha-Galactosidase
  • Young Adult
  • Precision Medicine
  • Pharmacogenetics
  • Mutation
  • Middle Aged
  • Male
  • Leukocytes, Mononuclear
  • Kidney
  • Humans