Keywords: Rare Disease, Diffusion Tensor Imaging
Motivation: Type II GM1 gangliosidosis is a rare disease that lacks reliable quantitative biomarkers to assess neuronal health.
Goal(s): We sought to quantify diffusion tensor imaging (DTI) parameters of different brain regions known to be affected in GM1 to track neuronal changes especially with the advent of gene therapy in treating GM1.
Approach: We quantified fractional anisotropy and radial diffusivity changes at different timepoints using DTI-MRI to evaluate myelination changes in GM1 patients treated with gene therapy and compared them to untreated patients and healthy controls.
Results: DTI can be used to demonstrate efficacy of gene therapy in monitoring disease progression/regression in GM1 patients.
Impact: This study addressed the need for reliable biomarkers in assessing neuronal health in type II GM1 gangliosidosis. Using DTI parameters, we demonstrated the efficacy of gene therapy in reliably monitoring myelination changes in GM1 patients.
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