Sandhoff Disease Clinical Trial
Official title:
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.
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. ;
Observational Model: Cohort, Time Perspective: Retrospective
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