MRI brain volumetric analysis of type II GM1 gangliosidosis patients treated with gene therapy

Motivation: Type II GM1 gangliosidosis is a rare disease that lacks reliable quantitative neural biomarkers to monitor disease progression. Goal(s): With the advent of gene therapy in treating GM1, we sought to quantify volumetrics of different brain regions known to be affected in GM1 patients. Approach: We quantified and tracked brain volumetric changes longitudinally on specific brain structures at different timepoints using MRI to evaluate disease progression/regression in GM1 patients treated with gene therapy and compared them to untreated patients and healthy controls. Results: We demonstrated the utility of brain volumetrics in assessing longitudinal brain region changes in gene therapy treated GM1 patients. Impact: Our study addressed the need for quantitative neural biomarkers in type II GM1 gangliosidosis which correlated with clinical markers. Through longitudinal brain volumetric analysis using MRI, we demonstrated the efficacy of gene therapy in monitoring disease progression/regression in GM1 patients.