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

ABSTRACT:

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.

Methods

Forty-one individuals with type II GM1 (n=17 late infantile and n=24 juvenile onset) participated in a single-site prospective observational study. Here, we describe the results of extensive multisystem assessment

SUBMITTER: D'Souza P 

PROVIDER: S-EPMC10836125 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature