Gene Therapy for Tay-Sachs Disease
| Status: | Completed |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 2/7/2015 |
| Start Date: | December 2010 |
| End Date: | August 2014 |
| Contact: | Brenda Diethelm-Okita, MPA |
| Email: | dieth001@umn.edu |
| Phone: | 612-625-1594 |
Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather)
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.
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.
Much has been done in the past four decades to better understand, improve diagnostic
measures of, and prevent hexosaminidase deficiency diseases, yet all of them — Tay-Sachs,
Sandhoff, and Late Onset Tay-Sachs (LOTS) — remain diseases without treatment. Much work
remains to be done to understand and effectively treat these diseases. To date, no
comprehensive assessment of the natural history of Tay-Sachs or Sandhoff has been
undertaken. The information that is gathered through this study will characterize and
describe the Tay-Sachs disease population as a whole, including the variability and
progression of this disease. This information, in turn, will function as a point of
reference against which to assess the efficacy of therapeutic interventions. Therapeutic
interventions may include any treatments/therapies the subject may have undergone in the
past, including hematopoietic cell transplantation, and/or the administration of miglustat,
acetylcysteine, or other pharmaceutical agents; and possible future gene therapies.
measures of, and prevent hexosaminidase deficiency diseases, yet all of them — Tay-Sachs,
Sandhoff, and Late Onset Tay-Sachs (LOTS) — remain diseases without treatment. Much work
remains to be done to understand and effectively treat these diseases. To date, no
comprehensive assessment of the natural history of Tay-Sachs or Sandhoff has been
undertaken. The information that is gathered through this study will characterize and
describe the Tay-Sachs disease population as a whole, including the variability and
progression of this disease. This information, in turn, will function as a point of
reference against which to assess the efficacy of therapeutic interventions. Therapeutic
interventions may include any treatments/therapies the subject may have undergone in the
past, including hematopoietic cell transplantation, and/or the administration of miglustat,
acetylcysteine, or other pharmaceutical agents; and possible future gene therapies.
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.
We found this trial at
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