Characterizing the diagnostic journey of patients with GM1 gangliosidosis using real-world data

GM1 gangliosidosis is a rare disorder characterized by reduced activity of β-galactosidase due to variants in the GLB1 gene, leading to the buildup of GM1 ganglioside within lysosomes and a spectrum of neurological and systemic symptoms. It can take months to years for patients and their families to reach a diagnosis, and improved understanding of the diagnostic journey can help to reduce the time to diagnosis. We used real-world data (RWD) from medical records to characterize the path to diagnosis for 27 research participants with GM1 gangliosidosis. This poster was presented at the National Society of Genetic Counselors meeting in November 2022.