Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
Hughes, Derralynn A. (University College London)
Bichet, D.G. (University of Montréal)
Giugliani, R. (INAGEMP)
Hopkin, R.J. (University of Cincinnati)
Krusinska, E. (Amicus Therapeutics Inc)
Nicholls, K. (University of Melbourne)
Olivotto, I. (Careggi University Hospital (Florència, Itàlia))
Feldt-Rasmussen, U. (University of Copenhagen)
Sakai, N. (Osaka University)
Skuban, N. (Amicus Therapeutics Inc)
Sunder-Plassmann, G. (Medical University of Vienna)
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
Wilcox, W.R. (Emory University)
Universitat Autònoma de Barcelona

Data:	2023
Resum:	Fabry disease is a rare, multisystemic disorder caused by GLA gene variants that lead to alpha galactosidase A deficiency, resulting in accumulation of glycosphingolipids and cellular dysfunction. Fabry-associated clinical events (FACEs) cause significant morbidity and mortality, yet the long-term effect of Fabry therapies on FACE incidence remains unclear. This posthoc analysis evaluated incidence of FACEs (as a composite outcome and separately for renal, cardiac and cerebrovascular events) in 97 enzyme replacement therapy (ERT)-naïve and ERT-experienced adults with Fabry disease and amenable GLA variants who were treated with migalastat for up to 8. 6 years (median: 5 years) in Phase III clinical trials of migalastat. Associations between baseline characteristics and incidence of FACEs were also evaluated. During long-term migalastat treatment, 17 patients (17. 5%) experienced 22 FACEs and there were no deaths. The incidence rate of FACEs was 48. 3 events per 1000 patient-years overall. Numerically higher incidence rates were observed in men versus women, patients aged.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Cardiovascular Diseases ; Cerebrovascular Disorders ; Genetics ; Medical ; Mutation
Publicat a:	Journal of medical genetics, Vol. 60 Núm. 7 (january 2023) , p. 722-731, ISSN 1468-6244

DOI: 10.1136/jmg-2022-108669
PMID: 36543533

10 p, 1.3 MB

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