Actively Recruiting
All Genders
ID00668187
A Natural History Study of the Gangliosidoses
Led by University of Minnesota · Updated on 2026-03-04
52
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
U
University of Minnesota
Lead Sponsor
R
Rare Diseases Clinical Research Network
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying the natural history and progression of gangliosidosis diseases, including Tay-Sachs disease, Sandhoff disease, and GM1 gangliosidosis. The study aims to develop quantitative methods to understand how these diseases evolve and vary among patients. This information will be important for evaluating future treatments like gene therapy, guiding medical decisions, measuring treatment outcomes, and informing families about potential disease outcomes. The study includes two main parts. The first part follows infants and juveniles with these diseases to observe how their condition changes over time. The second part focuses on adults with late-onset Tay-Sachs disease, using brain imaging and cognitive tests to study nervous system changes. Participants will be observed over multiple years to collect detailed data on their disease progression. Participants will undergo neuropsychological tests, brain MRIs, enzyme activity measurements, genetic testing, and clinical assessments at enrollment and then at 12, 24, 36, 48, and 60 months. The study collects detailed information on brain structure, cognitive status, and biochemical markers to track disease changes. This observational study lasts several years, with ongoing monitoring to better understand these rare conditions and support future treatment development.
CONDITIONS
Brief Title
A Natural History Study of the Gangliosidoses
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Subjects must have a documented gangliosidosis disease.
- Subjects must be able to complete appropriate neuropsychological and neurobehavioral assessments.
- Late-onset gangliosidosis subjects must be able to tolerate a head MRI.
You will not qualify if you...
- There are no exclusion criteria beyond a desire not to participate.
AI-Screening
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Long-term Monitoring
Duration - Up to 5 years
Participants undergo ongoing assessments to observe the progression of gangliosidosis diseases over time.
Visits at enrollment and at 12, 24, 36, 48, and 60 months
Trial Site Locations
Total: 1 location
1
University of Minnesota - Pediatric Genetics and Metabolism
Minneapolis, Minnesota, United States, 55455
Actively Recruiting
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Research Team
J
Jeanine R. Jarnes, PharmD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Published Research Related To This Trial
Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.
M Kaback, J Lim-Steele, D Dabholkar...
https://pubmed.ncbi.nlm.nih.gov/8230592Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
Orit Neudorfer, Gregory M Pastores, Bai J Zeng...
https://pubmed.ncbi.nlm.nih.gov/15714079Neuropsychiatric aspects of the adult variant of Tay-Sachs disease.
G M MacQueen, P I Rosebush, M F Mazurek
https://pubmed.ncbi.nlm.nih.gov/9547461The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis.
Lauren C Frey, Steven P Ringel, Christopher M Filley
https://pubmed.ncbi.nlm.nih.gov/15956171Hexosaminidase A deficiency in adults.
R Navon, Z Argov, A Frisch
https://pubmed.ncbi.nlm.nih.gov/2939718Neuropsychological assessment of patients with late onset GM2 gangliosidosis.
C M Zaroff, O Neudorfer, C Morrison...
https://pubmed.ncbi.nlm.nih.gov/15210895Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.
Jeanine R Jarnes Utz, Thomas Crutcher, Joseph Schneider...
https://pubmed.ncbi.nlm.nih.gov/25557439Infantile gangliosidoses: Mapping a timeline of clinical changes.
Jeanine R Jarnes Utz, Sarah Kim, Kelly King...
https://pubmed.ncbi.nlm.nih.gov/28476546Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.
Igor Nestrasil, Alia Ahmed, Josephine M Utz...
https://pubmed.ncbi.nlm.nih.gov/29352662