RecruitingNCT00668187

A Natural History Study of the Gangliosidoses


Sponsor

University of Minnesota

Enrollment

52 participants

Start Date

Dec 1, 2010

Study Type

OBSERVATIONAL

Conditions

Summary

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.


Eligibility

Plain Language Summary

Simplified for easier understanding

This is a long-term natural history study for patients with gangliosidoses — a group of rare, inherited metabolic disorders (including GM1 and GM2 gangliosidosis, like Tay-Sachs and Sandhoff disease) where harmful substances accumulate in the brain's nerve cells. By tracking how these conditions progress over time, researchers aim to better understand these diseases and prepare for future treatments. You may be eligible if: - You have a documented diagnosis of a gangliosidosis disorder - You are able to participate in neuropsychological and neurobehavioral assessments - If you have late-onset gangliosidosis, you must be able to tolerate a head MRI scan - There is no minimum or maximum age requirement You may NOT be eligible if: - You choose not to participate — there are no other formal exclusion criteria Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

University of Minnesota - Pediatric Genetics and Metabolism

Minneapolis, Minnesota, United States

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NCT00668187


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