Real-World Migalastat Use in Fabry Disease: Comparative Insights From the Pisani and Hughes Studies.

J Inherit Metab Dis

Department of Public Health, Chair of Nephrology, University Federico II of Naples, Naples, Italy.

Published: September 2025


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This systematic literature review aimed to identify studies assessing the clinical efficacy and real-world effectiveness of current and emerging treatments for Fabry disease. Searches of the MEDLINE, EMBASE, and Cochrane library databases, as well as relevant congress proceedings, were conducted to identify publications reporting on studies in patients of any age, sex, race, or ethnicity who received any approved or experimental treatment for Fabry disease, published before 17 June 2024. Of 1881 publications screened, 234 reported data on renal, cardiac, cerebrovascular, and disease severity outcomes from 225 studies.

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Article Synopsis
  • - Fabry disease (FD) is a rare genetic disorder causing issues in the kidneys, nervous system, and heart, with four treatment options: three enzyme replacement therapies (ERTs) and one pharmacological chaperone.
  • - Agalsidase beta and agalsidase alfa improve various organ functions and quality of life, with agalsidase beta possibly being more effective long-term; early treatment is crucial for optimal response.
  • - Migalastat benefits patients with specific gene variants by stabilizing kidney function and relieving some symptoms, but its neurological effects are unclear and further research is needed for direct treatment comparisons.
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  • Fabry disease (FD) is a rare metabolic disorder with varying symptoms, making it essential to identify patient characteristics that affect treatment outcomes due to a lack of direct treatment comparisons.
  • A systematic literature review (SLR) was performed to analyze real-world evidence from 119 studies, revealing potential treatment effect modifiers (TEMs) such as age, sex, timing of treatment, and renal function.
  • Key findings included that males tend to have poorer renal outcomes, younger patients benefit more from early treatment, and factors like left ventricular hypertrophy and baseline kidney function significantly influence disease progression and treatment efficacy.
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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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