Recruiting

Observational Study

Sponsor:

University of Minnesota

Code:

NCT00668187

Conditions

Tay-Sachs Disease

Sandhoff Disease

Late Onset Tay-Sachs Disease

GM1 Gangliosidosis

GM2 Gangliosidosis

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Tay-Sachs Disease

Sandhoff Disease

Late Onset Tay-Sachs Disease

GM1 Gangliosidosis

GM2 Gangliosidosis

Study ID

NCT00668187

Start date

Dec, 2010

Status verified date

Mar, 2026

Completion date

Mar 1, 2027

Anticipated

Primary completion date

Mar 1, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

52 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Change in Child Developmental Status as Assessed by Neuropsychological Tests [ Time Frame: Upon enrollment; then at 12, 24, 36, 48 and 60 months ]

Central Contacts and Locations

Central contacts

Jeanine R. Jarnes, PharmD

612-626-5131utzx0002@umn.edu

Locations

University of Minnesota - Pediatric Genetics and Metabolism

Recruiting

Minneapolis, Minnesota, United States, 55455

Contacts

Jeanine R. Jarnes, PharmD

612-626-5131utzx0002@umn.edu

Principal Investigator:

Jeanine R. Jarnes, PharmD

More Information

Sponsor

University of Minnesota

Last update posted

Mar 4, 2026

Last verified

Mar, 2026

Keywords

  • Tay-Sachs disease
  • Sandhoff disease
  • Late Onset Tay-Sachs disease
  • LOTS
  • hexosaminidase A deficiency
  • hexosaminidase A and B deficiency
  • infantile Tay-Sachs disease
  • adult-onset Tay-Sachs disease
  • prospective
  • natural history
  • GM1 gangliosidosis
  • gangliosidoses
  • β-galactosidase
  • β-galactosidase deficiency
  • hexosaminidase
  • hexosaminidase deficiency
  • Tay-Sachs
  • Sandhoff
  • juvenile Tay-Sachs
  • juvenile Tay-Sachs disease
  • late onset Tay-Sachs
  • juvenile Sandhoff
  • juvenile Sandhoff disease
  • GM2 gangliosidosis

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Minnesota on 2026-03-04.