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Gene Therapy for Tay-Sachs Disease

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ClinicalTrials.gov Identifier: NCT01869270
Recruitment Status : Completed
First Posted : June 5, 2013
Last Update Posted : December 4, 2014
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
National Center for Advancing Translational Science (NCATS)
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by (Responsible Party):
University of Minnesota - Clinical and Translational Science Institute

May 22, 2013
June 5, 2013
December 4, 2014
December 2010
July 2014   (Final data collection date for primary outcome measure)
Biomarkers [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ]
Biomarkers data to be collected include:
  1. CSF (cerebro-spinal fluid) hexosaminidase A activity
  2. CSF GM2-ganglioside
  3. CSF protein
  4. CSF chitotriosidase
  • Biomarkers [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ]
    Biomarkers data to be collected include:
    1. CSF (cerebro-spinal fluid) hexosaminidase A activity
    2. CSF GM2-ganglioside
    3. CSF protein
    4. CSF chitotriosidase
  • Clinical Indicators [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ]
    Clinical indicators data to be collected include:
    1. Cranial morphology from MRI exam reports
    2. Ophthalmologic exam findings
    3. Behavioral assessment and quality-of-life questionnaire responses from NCT00668187, which collaborates with the present study
    4. Life span length
Complete list of historical versions of study NCT01869270 on ClinicalTrials.gov Archive Site
  • Results of Ancillary Therapies or Treatments [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ]
    The results of any ancillary therapies or treatments will be noted. Such therapies or treatments may include hematopoietic cell transplantation and/or pharmacologic interventions.
  • Clinical Indicators [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ]
    Clinical indicators data to be collected include:
    1. Cranial morphology from MRI exam reports
    2. Ophthalmologic exam findings
    3. Behavioral assessment and quality-of-life questionnaire responses from NCT00668187, which collaborates with the present study
    4. Life-span length
Results of Ancillary Therapies or Treatments [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ]
The results of any ancillary therapies or treatments will be noted. Such therapies or treatments may include hematopoietic cell transplantation and/or pharmacologic interventions.
Not Provided
Not Provided
 
Gene Therapy for Tay-Sachs Disease
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
Observational Model: Cohort
Time Perspective: Retrospective
Not Provided
Not Provided
Non-Probability Sample
Any person, living or dead, who has been diagnosed with a hexosaminidase deficiency disease
  • Tay Sachs Disease
  • Sandhoff Disease
  • Late Onset Tay Sachs Disease
Not Provided
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
4
5
August 2014
July 2014   (Final data collection date for primary outcome measure)

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.

Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact information is only displayed when the study is recruiting subjects
United States
 
 
NCT01869270
0905M66723
U54NS065768 ( U.S. NIH Grant/Contract )
Yes
Not Provided
Not Provided
University of Minnesota - Clinical and Translational Science Institute
University of Minnesota - Clinical and Translational Science Institute
  • Rare Diseases Clinical Research Network
  • National Center for Advancing Translational Science (NCATS)
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Chester B. Whitley, PhD, MD University of Minnesota - Clinical and Translational Science Institute
Principal Investigator: Jeffrey Krischer, PhD University of South Florida
University of Minnesota - Clinical and Translational Science Institute
December 2014