Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naive Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.

ABSTRACT: Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the GBA1 gene, encoding glucocerebrosidase. Deficiency of this enzyme leads to progressive accumulation of the sphingolipid glucosylsphingosine (lyso-Gb1). The international, multicenter, observational "Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease"-LYSO-PROOF study succeeded in enrolling a cohort of 160 treatment-naïve GD patients from diverse geographic regions and evaluated the potential of lyso-Gb1 as a specific biomarker for GD. Using genotypes based on established classifications for clinical presentation, patients were stratified into type 1 GD (n = 114) and further subdivided into mild (n = 66) and severe type 1 GD (n = 48). Due to having pre

SUBMITTER: Curado F 

PROVIDER: S-EPMC10487050 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature