Gene Therapy for Tay-Sachs Disease

Brief Title

Gene Therapy for Tay-Sachs Disease

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

      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.

Detailed Description

      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.

Study Type


Primary Outcome


Secondary Outcome

 Results of Ancillary Therapies or Treatments


Tay Sachs Disease


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

December 2010

Completion Date

August 2014

Primary Completion Date

July 2014

Eligibility Criteria

        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.




N/A - N/A

Accepts Healthy Volunteers



Chester B. Whitley, PhD, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Responsible Party


Study Sponsor

University of Minnesota


 Rare Diseases Clinical Research Network

Study Sponsor

Chester B. Whitley, PhD, MD, Principal Investigator, University of Minnesota

Verification Date

December 2014