| Title: |
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes |
| Authors: |
Hughes, Derralynn A.; Bichet, D.G.; Giugliani, R.; Hopkin, R.J.; Krusinska, E.; Nicholls, K.; Olivotto, I.; Feldt-Rasmussen, U.; Sakai, N.; Skuban, N.; Sunder-Plassmann, G.; Torra Balcells, Roser; Wilcox, W.R.; Universitat Autònoma de Barcelona |
| Publication Year: |
2023 |
| Collection: |
Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB |
| Subject Terms: |
Cardiovascular Diseases; Cerebrovascular Disorders; Genetics; Medical; Mutation |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
14686244 |
| Relation: |
Journal of medical genetics; Vol. 60 Núm. 7 (january 2023), p. 722-731; https://ddd.uab.cat/record/301310; urn:oai:ddd.uab.cat:301310; urn:scopus_id:85148627704; urn:articleid:14686244v60n7p722; urn:pmid:36543533; urn:pmcid:PMC10359570; urn:oai:pubmedcentral.nih.gov:10359570 |
| Availability: |
https://ddd.uab.cat/record/301310 |
| Rights: |
open access ; 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. ; https://creativecommons.org/licenses/by-nc/4.0/ |
| Accession Number: |
edsbas.A809E221 |
| Database: |
BASE |