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A Natural History Study of the Gangliosidoses

Description

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 DiseaseSandhoff DiseaseLate Onset Tay-Sachs DiseaseGM1 GangliosidosisGM2 Gangliosidosis
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Related Conditions:

Tay-Sachs DiseaseSandhoff DiseaseLate Onset Tay-Sachs DiseaseGM1 GangliosidosisGM2 Gangliosidosis

Study Overview

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Study Details

Study overview

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.

A Natural History Study of the Gangliosidoses

A Natural History Study of the Gangliosidoses

Condition
Tay-Sachs Disease
Intervention / Treatment

-

Contacts and Locations

Minneapolis

University of Minnesota - Pediatric Genetics and Metabolism, Minneapolis, Minnesota, United States, 55455

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • 1. There are no exclusion criteria, beyond a desire not to participate.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of Minnesota,

Jeanine R. Jarnes, PharmD, PRINCIPAL_INVESTIGATOR, University of Minnesota - Fairview

Study Record Dates

2027-03-01