Natural History Study of GM1 and GM2 Gangliosidosis, Sialidosis, and Galactosialidosis Across All Ages

What this Trial Is About

Researchers are studying the natural history and progression of rare neurodegenerative diseases called glycosphingolipid storage disorders including GM1 and GM2 gangliosidosis and glycoprotein disorders such as sialidosis and galactosialidosis. These disorders primarily affect the brain and central nervous system and are often fatal or severely debilitating. Since effective treatments are not yet available, this study aims to gather detailed information on disease progression and identify markers that can help in future clinical trials. Participants with enzyme or DNA confirmation of these disorders will be evaluated using various medical technologies, including MRIMRS, hearing tests, EEG, sleep studies, nerve conduction studies, heart and abdominal ultrasounds, and evaluations from specialists in rehabilitation, ophthalmology, speech therapy, neurology, and psychology. Samples of blood, cerebrospinal fluid, and urine will be collected to explore biological markers related to disease severity. Additional laboratory work includes fibroblast cultures and the creation of stem cells to study neural tissues. Some participants or their families may complete questionnaires about medical history and disease presentation, with options for remote participation if travel is difficult. Participants may be seen every six months for infantile onset disease, yearly for juvenile onset, and approximately every two years for adult-onset disease, as long as they can travel safely. Data will be analyzed over time for each patient and across groups by age and genotype. The study measures natural disease progression and seeks to develop sensitive tools to monitor it. Participation involves clinical evaluations, imaging, laboratory tests, questionnaires, and sample collection, with no treatment administered as part of the study.

Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders