Article

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

2024-01-04

Abstract excerpt

<h4>Purpose</h4> 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. Understandin...

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Literature Corpus work: 56d69d09-370d-51c8-9588-622102bd6d7d
DOI: 10.1101/2024.01.04.24300778

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