Aime K Johnson, Victoria J McCurdy, Heather L Gray-Edwards, Anne S Maguire, J Nicholas Cochran, Amanda L Gross, Haleigh E Skinner, Ashley N Randle, Jamie L Shirley, Brandon L Brunson, Allison M Bradbury, Stanley G Leroy, Misako Hwang, Hannah E Rockwell, Nancy R Cox, Henry J Baker, Thomas N Seyfried, Miguel Sena-Esteves, Douglas R Martin
OBJECTIVE: GM2 gangliosidosis is usually fatal by 5 years of age in its 2 major subtypes, Tay-Sachs and Sandhoff disease. First reported in 1881, GM2 gangliosidosis has no effective treatment today, and children succumb to the disease after a protracted neurodegenerative course and semi-vegetative state. This study seeks to further develop adeno-associated virus (AAV) gene therapy for human translation. METHODS: Cats with Sandhoff disease were treated by intracranial injection of vectors expressing feline β-N-acetylhexosaminidase, the enzyme deficient in GM2 gangliosidosis...
November 2023: Annals of Neurology