Characterizing the diagnostic journey of patients with GM2 gangliosidosis using real-world data

GM2 gangliosidosis is a group of rare lysosomal storage disorders characterized by the impaired degradation of GM2 ganglioside, causing a spectrum of systemic and neurological symptoms. While previous studies have characterized the natural history of GM2 gangliosidosis, little is known about the path patients take to reach a diagnosis. We used real-world data (RWD) from patient medical records to characterize the diagnostic journey of 23 research participants with GM2. This poster was presented at the National Society of Genetic Counselors meeting in November 2022.