Longevity & AgingNew Glycan Biomarker Detects GM1 Gangliosidosis With Perfect Accuracy and Tracks Gene Therapy
Researchers validated H3N2b, a pentasaccharide oligosaccharide, as a highly accurate biomarker for GM1 gangliosidosis — a fatal lysosomal storage disease caused by β-galactosidase deficiency. Measuring H3N2b in plasma, urine, and cerebrospinal fluid (CSF) from 47 patients and hundreds of controls, the team found near-perfect separation between patients and healthy individuals across all three matrices. Crucially, H3N2b levels correlated with disease severity (infantile > late-infantile > juvenile subtypes) but were unaffected by age or sex. In patients receiving AAV9-mediated GLB1 gene therapy, H3N2b concentrations dropped after treatment, closely mirroring recovery of β-galactosidase enzyme activity. These findings position H3N2b as both a sensitive diagnostic tool and a pharmacodynamic biomarker capable of objectively tracking therapeutic response in clinical trials.
