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
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.
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
Observational
Primary Outcome
Biomarkers
Secondary Outcome
Results of Ancillary Therapies or Treatments
Condition
Tay Sachs Disease
Publications
* 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
4
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.
Gender
All
Ages
N/A - N/A
Accepts Healthy Volunteers
No
Contacts
Chester B. Whitley, PhD, MD, ,
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT01869270
Organization ID
0905M66723
Secondary IDs
U54NS065768
Responsible Party
Sponsor
Study Sponsor
University of Minnesota
Collaborators
Rare Diseases Clinical Research Network
Study Sponsor
Chester B. Whitley, PhD, MD, Principal Investigator, University of Minnesota
Verification Date
December 2014