Understanding the progression of gangliosidosis diseases
A Natural History Study of the Gangliosidoses
This study looks at how gangliosidosis diseases, like Tay-Sachs and Sandhoff, progress over time in order to help doctors and families understand the conditions better and prepare for future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 52 (estimated) |
| Sex | All |
| Sponsor | University of Minnesota Academic / other |
| Locations | 1 site (Minneapolis, Minnesota) |
| Trial ID | NCT00668187 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize and describe the disease progression and heterogeneity of gangliosidosis diseases, including Tay-Sachs disease, Sandhoff disease, and GM1 gangliosidosis. By developing a quantitative method to delineate disease progression, the study seeks to provide essential data for evaluating future treatments, such as gene therapy. Longitudinal data will be collected from individuals diagnosed with these conditions to better understand their natural history and inform medical decisions. The findings will also help in providing objective measurements of treatment outcomes and guiding parents regarding potential outcomes for their children.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with gangliosidosis diseases, including both infantile and late-onset forms.
Not a fit: Patients without a documented gangliosidosis disease or those unable to complete necessary assessments may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of gangliosidosis diseases, paving the way for future therapeutic interventions.
How similar studies have performed: While this study focuses on the natural history of gangliosidosis diseases, similar observational studies have successfully characterized other rare diseases, suggesting potential for valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. Subjects must have a documented gangliosidosis disease. 2. Subjects must be able to complete appropriate neuropsychological and neurobehavioral assessments. 3. Late-onset gangliosidosis subjects must be able to tolerate a head MRI. Exclusion Criteria: 1\. There are no exclusion criteria, beyond a desire not to participate.
Where this trial is running
Minneapolis, Minnesota
- University of Minnesota - Pediatric Genetics and Metabolism — Minneapolis, Minnesota, United States (Recruiting)
Study contacts
- Principal investigator: Jeanine R. Jarnes, PharmD — University of Minnesota - Fairview
- Study coordinator: Jeanine R. Jarnes, PharmD
- Email: utzx0002@umn.edu
- Phone: 612-626-5131
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.