Long-term efficacy of migalastat in females with Fabry disease

作者：Staci Kallish, Antonia Camporeale, Robert J. Hopkin, Ana Jovanović, Peter Nordbeck, Biliana O. Veleva-Rotse, Eva Krusinska, Roser Torrá · 发表于：Journal of Medical Genetics · 年份：2025 · DOI：10.1136/jmg-2024-110596 · 被引用次数：2 · 研究领域：Lysosomal Storage Disorders Research、Cerebrovascular and genetic disorders、Glycogen Storage Diseases and Myoclonus

Background Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. Females with Fabry disease often experience diagnostic delays and an underappreciated disease burden owing to their variable disease presentation and progression. Methods We conducted a post hoc analysis of all females from the clinical studies FACETS ( NCT00925301 ) and ATTRACT ( NCT01218659 ) and their open-label extensions, assessing baseline characteristics and long-term efficacy of migalastat regarding cardiac and renal function and Fabry-associated clinical events (FACEs). Results Overall, 60 females had a median migalastat exposure of 5.1 years. At baseline, the median age was 47 years with multiorgan involvement in 70.0% of females (≥2 organ systems: renal, cardiac, central nervous system, peripheral nervous system and gastrointestinal). At baseline, 21.7% of females had left ventricular hypertrophy (LVH). In multiorgan involvement and LVH subgroups, the median baseline estimated glomerular filtration rate (eGFR) was in chronic kidney disease stage 2. Annualised rate of change in left ventricular mass index remained below 1 g/m 2 /year regardless of LVH or eGFR category at baseline. Mean (SD) eGFR annualised change was −1.1 (2.8) mL/min/1.73 m 2 overall. Ten FACEs were reported in eight females, seven of whom had prior events. Seven FACEs were cardiac; the remaining three were cerebrovascular (all transient ischaemic attack...