Natural History Study of Glycosphingolipid Storage Disorders and Glycoprotein Disorders Evaluating Disease Progression and Biomarkers

What this Trial Is About

This research aims to understand the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders such as GM1 and GM2 gangliosidosis, and glycoprotein disorders including sialidosis and galactosialidosis. These rare, often fatal disorders mainly affect the brain, skeletal, and central nervous systems. The study seeks to develop sensitive tools to monitor disease progression and identify biological markers in blood, cerebrospinal fluid, and urine that relate to disease severity and can be used in future clinical trials. Patients with enzyme or DNA confirmed diagnoses of GM1 or GM2 gangliosidosis, sialidosis, or galactosialidosis will be followed. Evaluations occur every 6 months for infantile onset, yearly for juvenile onset, and approximately every two years for adult onset, depending on clinical stability and ability to travel. The study includes medical assessments like MRI/MRS, hearing tests, EEG, sleep studies, muscle and nerve tests, echocardiograms, ultrasounds, and various specialist evaluations. Samples such as blood, cerebrospinal fluid, urine, and fibroblast cultures may be collected to explore disease markers and mechanisms. Participants or their parents may complete questionnaires about medical and developmental history, initial symptoms, and diagnosis steps. Head circumference data may be gathered for children, especially those with infantile GM2 gangliosidosis. The study includes patients of all ages, races, and genders, including those unable to travel or deceased, through remote data collection. Researchers will monitor disease progression through clinical and biological measures over time, contributing valuable knowledge for future therapies. The study allows up to 200 participants and follows them longitudinally to better understand these devastating disorders.

Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders