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

Autor: Curado, Filipa, Rösner, Sabine, Zielke, Susanne, Westphal, Gina, Grittner, Ulrike, Skrahina, Volha, Alasel, Mohammed, Malik, Ahmad Mehmood, Beetz, Christian, Böttcher, Tobias, Barel, Gal, Sah, Ashish Prasad, Dinur, Tama, Anjum, Nadeem, Ichraf, Quidad, Kriouile, Yamna, Hadipour, Zahra, Hadipour, Fatemeh, Revel-Vilk, Shoshana, Cozma, Claudia
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Zdroj: Diagnostics (2075-4418); Sep2023, Vol. 13 Issue 17, p2812, 11p
Abstrakt: 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 previously unreported genotypes, 46 patients could not be classified. Though lyso-Gb1 values at enrollment were widely distributed, they displayed a moderate and statistically highly significant correlation with disease severity measured by the GD-DS3 scoring system in all GD patients (r = 0.602, p < 0.0001). These findings support the utility of lyso-Gb1 as a sensitive biomarker for GD and indicate that it could help to predict the clinical course of patients with undescribed genotypes to improve personalized care in the future. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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