Clinical Trial: Gene Therapy for Tay-Sachs Disease

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.


Detailed Summary: 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.
Sponsor: University of Minnesota - Clinical and Translational Science Institute

Current Primary Outcome: 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


Original Primary Outcome:

  • 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


Current Secondary Outcome:

  • 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


Original Secondary Outcome: 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.


Information By: University of Minnesota - Clinical and Translational Science Institute

Dates:
Date Received: May 22, 2013
Date Started: December 2010
Date Completion:
Last Updated: December 3, 2014
Last Verified: December 2014