Heather Gray-Edwards1, Nouha Salibi2, Anne Maguire1, Taylor Voss1, Lauren Ellis1, Ashley Randle1, Ronald Beyers1, Miguel Sena-Esteves3, Thomas Denney1, and Douglas Martin1
1Auburn University, Auburn, AL, United States, 2Siemens Healthcare, Malvern, PA, United States, 3University of Massachusetts, Worcester, MA, United States
GM1 gangliosidosis is a fatal neurodegenerative disorder of children and currently only palliative care is available to patients. Preclinical gene therapy experiments in the GM1 cat resulted in >5 fold increased lifespan, prompting human clinical trials, however objective markers are lacking. 7T MR spectroscopy reliably predicts feline GM1 neurodegeneration with several alterations occurring presymptomatically and worsening with disease progression. Gene therapy results in partial correction of several parameters and changes correlate with clinical assessment scores. Post-mortem analyses included assessment of microgliosis and demyelination, and these findings also correlated with MRS.