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impact of sglt2 inhibitors in patients with fabry disease
Original title: “Impact of SGLT2 inhibitors in patients with Fabry disease.”
lecithin cholesterol acyltransferase deficiency with the finding of zebra bodies a diagnostic challenge in the context of suspected fabry disease
Original title: “Lecithin-cholesterol acyltransferase deficiency with the finding of "zebra bodies": A diagnostic challenge in the context of suspected Fabry disease.”
The gene therapy uses an AAV vector to restore healthy levels of the alpha-galactosidase enzyme, which is rendered dysfunctional in patients with Fabry disease, leading to the toxic build-up of lipids in cells.
Original title: “Liver Toxicities Force Pause on Two Dose Groups of UniQure’s Mid-Stage Fabry Study”
Currently, ERT is the only treatment option for patients with Fabry disease – requiring patients to make a lifelong commitment to biweekly intravenous infusions at a dedicated healthcare centre. This data was presented at the WORLDSymposium in San Diego. While gene therapies have shown strong potential across a range of rare diseases, questions remain on the benefit-risk profile of some therapies, as multiple trials ... Currently, ERT is the only treatment option for patients with Fabry disease – requiring patients to make a lifelong commitment to biweekly intravenous infusions at a dedicated healthcare centre. This data was presented at the WORLDSymposium in San Diego. While gene therapies have shown strong potential across a range of rare diseases, questions remain on the benefit-risk profile of some therapies, as multiple trials have reported liver enzyme elevations in patients that have – in some cases – been fatal. uniQure will pause administration in the mid-to-high dose cohorts of the trial in Fabry disease, pending further evaluation. While a patient death following the event required Intellia to pause the trial initially, dosing later resumed in January 2026. Intellia CEO also confirmed that the AE was due to an infection and not ALI. Novartis’ AAV-based spinal muscular atrophy (SMA) drug, Zolgensma (onasemnogene abeparvovec-xioi) also caused two patient fatalities through acute liver failure. Cell & Gene therapy coverage on Clinical Trials Arena is supported by Cytiva. There were no additional serious treatment-emergent adverse events (TEAEs) reported in patients given the high dose, though patients given AMT-191 have previously experienced treatment-related chest pain and increased troponin levels. A patient treated with the gene therapy also developed a case of leptomeningeal enhancement, though it is currently unclear if this was associated with AMT-191. While AMT-191’s safety profile raises questions, the gene therapy did demonstrate early efficacy, as it triggered an elevation in α-galactosidase A (α-Gal A) activity, a key marker associated with Fabry disease across all three evaluated doses – 6×1013 genome copies/kilogram (gc/kg), 4×1013 gc/kg, and 2×1013 gc/kg.
Original title: “UniQure pauses dosing in Fabry disease trial amid safety concerns - Clinical Trials Arena”
BioMarin Pharmaceutical’s acquisition of Amicus Therapeutics is a marriage of two rare disease biotech companies. Amicus’s two commercialized products, for the enzyme deficiencies Fabry disease and Pompe disease, are each projected to become blockbuster sellers.
Original title: “BioMarin’s Presence in Rare Enzyme Disorders Grows With $4.8B Amicus Therapeutics Acquisition - MedCity News”
cardiovascular morbidity and mortality in fabry disease
Original title: “Cardiovascular Morbidity and Mortality in Fabry Disease.”
successful experience with high risk and family screening for fabry disease in ninghai county zhejiang province eastern china genotype phenotype analysis of the gla ivs4 919g a variant
Original title: “Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant.”
Sanofi will take venglustat to regulators for Gaucher disease but an application for Fabry disease is less clear after the failure of a Phase III trial.
Original title: “Sanofi Rare Disease Drug Scores a Hit and a Miss in Phase III Tests”
dapagliflozin in patients with ckd with fabry disease
Original title: “Dapagliflozin in Patients With CKD With Fabry Disease.”