Publications by authors named "Jasmine Rutecki"
Article Synopsis
- Fabry disease is an X-linked lysosomal disorder causing complications like kidney issues and challenges with drug elimination, prompting the need to study migalastat in patients with end-stage renal disease (ESRD) on dialysis.
- This study tested a 123 mg dose of migalastat in ESRD patients compared to controls with normal kidney function, examining its pharmacokinetics, how well it's cleared during dialysis, and its tolerability.
- Results showed that migalastat is largely removed by dialysis and suggested dosing regimens for ESRD patients that could maintain effective drug levels while minimizing accumulation in tissues.
Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat-amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient-focused registry evaluating outcomes for current Fabry disease treatments. We report annualised estimated glomerular filtration rate (eGFR) and Fabry-associated clinical events (FACEs) in a cohort of patients who had received ≥3 years of migalastat treatment in a real-world setting.
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