Hypothesis: To characterize and describe disease progression and heterogeneity of the gangliosidosis diseases.
This research study seeks to develop a quantitative method to delineate disease progression for the gangliosidosis diseases (Tay-Sachs disease, Sandhoff disease, and GM1 gangliosidosis) in order to better understand the natural history and heterogeneity of these diseases. Such a quantitative method will also be essential for evaluating any treatments that may become available in the future, such as gene therapy. The data from this study will be necessary to provide end-points for future therapies, guide medical decisions about treatment, provide objective measurement of treatment outcomes, and accurately inform parents regarding potential outcomes.
Subjects must have a documented gangliosidosis disease.
Subjects must be able to complete appropriate neuropsychological and neurobehavioral assessments.
Late-onset gangliosidosis subjects must be able to tolerate a head MRI.
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University of Minnesota
Lead sponsor
Rare Diseases Clinical Research Network
Collaborator
National Center for Advancing Translational Sciences (NCATS)
Collaborator
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Collaborator
Lysosomal Disease Network
Collaborator