Gene Therapy for Tay-Sachs Disease

Completed

• Conditions: Tay Sachs Disease; Sandhoff Disease; Late Onset Tay Sachs Disease

• Registration Number: NCT01869270
• Lead Sponsor: University of Minnesota

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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2010-12
• Study First Submitted: 2013-05-22
• Study First Submitted QC: 2013-05-30
• Study First Posted: 2013-06-05
• Primary Completion: 2014-07
• Study Completion: 2014-08
• Status Verified: 2014-12
• Last Update Submitted: 2014-12-03
• Last Update Posted: 2014-12-04

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 4

Inclusion Criteria

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

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Exclusion Criteria

The only exclusion criteria is a desire not to participate in this study.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Biomarkers	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

Secondary Outcome Measures

Name	Time	Method
Results of Ancillary Therapies or Treatments	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	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

Trial Locations

Locations (2)

Data Management and Coordinating Center (DMCC), Univ. of South Florida; 🇺🇸 Tampa, Florida, United States

University of Minnesota; 🇺🇸 Minneapolis, Minnesota, United States