This study evaluates Lyso-Gb1 as a biomarker for monitoring treatment response in Gaucher disease (GD) patients, using real-world data from the Gaucher Outcome Survey. Researchers analyzed 435 patients (2014–2022) to assess Lyso-Gb1 concentration changes following enzyme replacement therapy (ERT).
Key findings:
Lyso-Gb1 levels significantly decreased in treated patients (median change: -8.6 ng/mL) and increased in untreated patients (+25.0 ng/mL).
Patients who discontinued ERT experienced a rise in Lyso-Gb1 levels, indicating disease progression.
Velaglucerase alfa-treated patients showed greater reductions in Lyso-Gb1 compared to the overall treated cohort.
Improvement in hemoglobin, platelet count, and spleen volume was observed in treated patients.
The study confirms Lyso-Gb1 as a reliable biomarker for GD management, supporting its use for routine clinical monitoring and treatment adjustments.
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