A Natural History Study of the Gangliosidoses

Status: Recruiting
Location: See location...
Study Type: Observational

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.

Participation Requirements
Sex: All
Healthy Volunteers: No

• 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.

United States
University of Minnesota - Pediatric Genetics and Metabolism
Contact Information
Jeanine R. Jarnes, PharmD
Time Frame
Start Date: December 2010
Estimated Completion Date: March 1, 2027
Target number of participants: 52
Gangliosidosis Diseases Study Population
This study observes one cohort: 42 infantile or juvenile Tay-Sachs disease, Sandhoff disease, or GM1 gangliosidosis affected subjects; and 10 late-onset gangliosidosis disease affected subjects.
Chester B. Whitley, Jeanine R. Jarnes, Jeanine R. Utz
Collaborators: National Center for Advancing Translational Sciences (NCATS), Lysosomal Disease Network, National Institute of Neurological Disorders and Stroke (NINDS), Rare Diseases Clinical Research Network, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Leads: University of Minnesota

This content was sourced from clinicaltrials.gov

Similar Clinical Trials