Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather)

Status: Completed
Location: See all (2) locations...
Study Type: Observational

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.

Participation Requirements
Sex: All
Healthy Volunteers: No

• Any person who has been diagnosed with a hexosaminidase deficiency disease can be included in this study.

United States
Data Management and Coordinating Center (DMCC), Univ. of South Florida
University of Minnesota
Time Frame
Start Date: December 2010
Completion Date: August 2014
Target number of participants: 4
Chester B. Whitley, Jeffrey Krischer
Collaborators: National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), Rare Diseases Clinical Research Network, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Leads: University of Minnesota

This content was sourced from

Similar Clinical Trials