Gene Therapy for Tay-Sachs Disease
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ClinicalTrials.gov Identifier: NCT01869270 |
Recruitment Status
:
Completed
First Posted
: June 5, 2013
Last Update Posted
: December 4, 2014
|
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Hypothesis: To study the natural history of Tay-Sachs disease and evaluate therapeutic interventions.
This study is intended to work in collaboration with NCT00668187 "A Natural History Study of Hexosaminidase Deficiency." Because so few patients with Tay-Sachs disease present annually, we will maximize both research projects by enrolling patients in both studies. For this present study, we will perform retrospective medical record review to gather data. Through this medical record review, we will collect biomarker analysis results, neuroimaging report data, quality-of-life questionnaire data and ophthalmology exam findings. If the subject has undergone therapy or treatment, the results will be noted.
Condition or disease |
---|
Tay Sachs Disease Sandhoff Disease Late Onset Tay Sachs Disease |
Study Type : | Observational |
Actual Enrollment : | 4 participants |
Observational Model: | Cohort |
Time Perspective: | Retrospective |
Official Title: | Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather) |
Study Start Date : | December 2010 |
Actual Primary Completion Date : | July 2014 |
Actual Study Completion Date : | August 2014 |

- Biomarkers [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ]
Biomarkers data to be collected include:
- CSF (cerebro-spinal fluid) hexosaminidase A activity
- CSF GM2-ganglioside
- CSF protein
- CSF chitotriosidase
- Results of Ancillary Therapies or Treatments [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ]The results of any ancillary therapies or treatments will be noted. Such therapies or treatments may include hematopoietic cell transplantation and/or pharmacologic interventions.
- Clinical Indicators [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ]
Clinical indicators data to be collected include:
- Cranial morphology from MRI exam reports
- Ophthalmologic exam findings
- Behavioral assessment and quality-of-life questionnaire responses from NCT00668187, which collaborates with the present study
- Life-span length

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | Child, Adult, Senior |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
Any person who has been diagnosed with a hexosaminidase deficiency disease can be included in this study.
Exclusion Criteria:
The only exclusion criteria is a desire not to participate in this study.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01869270
United States, Florida | |
Data Management and Coordinating Center (DMCC), Univ. of South Florida | |
Tampa, Florida, United States, 33612 | |
United States, Minnesota | |
University of Minnesota | |
Minneapolis, Minnesota, United States, 55455 |
Principal Investigator: | Chester B. Whitley, PhD, MD | University of Minnesota - Clinical and Translational Science Institute | |
Principal Investigator: | Jeffrey Krischer, PhD | University of South Florida |
Additional Information:
Responsible Party: | University of Minnesota - Clinical and Translational Science Institute |
ClinicalTrials.gov Identifier: | NCT01869270 History of Changes |
Other Study ID Numbers: |
0905M66723 U54NS065768 ( U.S. NIH Grant/Contract ) |
First Posted: | June 5, 2013 Key Record Dates |
Last Update Posted: | December 4, 2014 |
Last Verified: | December 2014 |
Keywords provided by University of Minnesota - Clinical and Translational Science Institute:
Tay-Sachs disease Sandhoff disease late-onset Tay-Sachs disease adult-onset Tay-Sachs disease late onset Tay Sachs disease adult onset Tay Sachs disease hexosaminidase deficiency |
retrospective hexosaminidase A activity GM2-ganglioside gangliosidoses natural history hexosaminidase |
Additional relevant MeSH terms:
Tay-Sachs Disease Sandhoff Disease Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Genetic Diseases, Inborn |
Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders Gangliosidoses, GM2 Gangliosidoses Sphingolipidoses Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors |