Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather)
Brief Summary:
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.