RECRUITING

A Natural History Study of the Gangliosidoses

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

A Natural History Study of the Gangliosidoses

Quick Facts

Study Start:2010-12
Study Completion:2027-03-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT00668187

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.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Subjects must have a documented gangliosidosis disease.
  2. 2. Subjects must be able to complete appropriate neuropsychological and neurobehavioral assessments.
  3. 3. Late-onset gangliosidosis subjects must be able to tolerate a head MRI.
  1. 1. There are no exclusion criteria, beyond a desire not to participate.

Contacts and Locations

Study Contact

Jeanine R. Jarnes, PharmD
CONTACT
612-626-5131
utzx0002@umn.edu

Principal Investigator

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

Study Locations (Sites)

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

Collaborators and Investigators

Sponsor: University of Minnesota

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2010-12
Study Completion Date2027-03-01

Study Record Updates

Study Start Date2010-12
Study Completion Date2027-03-01

Terms related to this study

Keywords Provided by Researchers

  • 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

Additional Relevant MeSH Terms

  • Tay-Sachs Disease
  • Sandhoff Disease
  • Late Onset Tay-Sachs Disease
  • GM1 Gangliosidosis
  • GM2 Gangliosidosis