Precilla D'Souza, Cristan Farmer, Jean Johnston, Sangwoo T Han, David Adams, Adam L Hartman, Wadih Zein, Laryssa A Huryn, Beth Solomon, Kelly King, Christopher Jordan, Jennifer Myles, Elena-Raluca Nicoli, Caroline E Rothermel, Yoliann Mojica Algarin, Reyna Huang, Rachel Quimby, Mosufa Zainab, Sarah Bowden, Anna Crowell, Ashura Buckley, Carmen Brewer, Deborah Regier, Brian Brooks, Eva Baker, Gilbert Vézina, Audrey Thurm, Cynthia J Tifft
PURPOSE: GM1 gangliosidosis (GM1) is an ultra-rare lysosomal storage disease caused by pathogenic variants in galactosidase beta 1 ( GLB1 ; NM_000404), primarily characterized by neurodegeneration, often in children. There are no approved treatments for GM1, but clinical trials using gene therapy ( NCT03952637 , NCT04713475 ) and small molecule substrate inhibitors ( NCT04221451 ) are ongoing. Understanding the natural history of GM1 is essential for timely diagnosis, facilitating better supportive care, and contextualizing the results of therapeutic trials...
January 4, 2024: medRxiv