Fabry disease Enzyme Enhancement on migalastat Study: FEES.

Autor: Kugan M; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust London, United Kingdom., D'Amore S; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust London, United Kingdom., Mitra-Royhurst U; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust London, United Kingdom., Patel S; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust London, United Kingdom., Burke D; Camelia Botnar Laboratories, Great Ormond Street Hospital for Children NHS Trust London, United Kingdom., Heales S; Camelia Botnar Laboratories, Great Ormond Street Hospital for Children NHS Trust London, United Kingdom; University College London, United Kingdom., Ramaswami U; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust London, United Kingdom; University College London, United Kingdom. Electronic address: uma.ramaswami@nhs.net.
Jazyk: angličtina
Zdroj: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jul 15; Vol. 561, pp. 119843. Date of Electronic Publication: 2024 Jul 02.
DOI: 10.1016/j.cca.2024.119843
Abstrakt: Background: There is limited information on the α-galactosidase A (α-Gal-A) in vivo response in Fabry patients receiving migalastat. In this single centre study, we evaluated changes from baseline in α-Gal A activity, lyso-Gb3 and other assessments in patients on migalastat.
Results: 79 patients were recruited (48 M:31F; median duration receiving migalastat 3.8 years [range = 0.4-14.9 years]). N215S was the commonest genotype in males (67 %) and females (29 %). Leukocyte α-Gal-A showed a positive change from baseline in males (n = 4; median = 20.05); females (n = 8; median = 26). Of these, 3 males and 1 female had N215S (median = 16.7), while 7 females and 1 male had other genotypes (median = 26). No significant changes observed in plasma α-Gal-A. Cross-sectional analysis of post-baseline data confirmed leukocyte α-Gal-A enhancement in males (n = 47; median = 20); females (n = 30; median = 72); N215S (n = 41; median = 29) and other genotypes (n = 36; median = 36.5). Plasma and dried blood spot (DBS) lyso-Gb3 correlated at baseline and post-baseline (r = 0.77 and r = 0.96; p=<0.0001).
Conclusions: In the 12 patients with paired data, there was a median enzyme enhancement of 17.4 (relative change = 2.54) and 33 (relative change = 0.87) in males and in females, respectively. The cross-sectional post-baseline data in 47 patients corroborated leukocyte α-Gal-A enhancement on migalastat. Plasma and DBS lyso-Gb3 correlated well supporting DBS utility for disease monitoring.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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