Gene Therapy for Tay-Sachs Disease

Study Overview
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Brief Summary
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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
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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.

Official Title
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Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather)

Conditions
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Tay Sachs Disease, Sandhoff Disease, Late Onset Tay Sachs Disease

Participation Criteria
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Eligibility Criteria
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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
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Biomarkers | Biomarkers data to be collected include: CSF (cerebro-spinal fluid) hexosaminidase A activity CSF GM2-ganglioside CSF protein CSF chitotriosidase | Participants will be followed for the duration of the study, an expected average of two years. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Results of Ancillary Therapies or Treatments | The results of any ancillary therapies or treatments will be noted. Such therapies or treatments may include hematopoietic cell transplantation and/or pharmacologic interventions. | Participants will be followed for the duration of the study, an expected average of two years. | 
| Clinical Indicators | Clinical indicators data to be collected include: Cranial morphology from MRI exam reports Ophthalmologic exam findings Behavioral assessment and quality-of-life questionnaire responses from NCT00668187, which collaborates with the present study Life-span length | Participants will be followed for the duration of the study, an expected average of two years. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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hexosaminidase deficiency, Tay-Sachs disease, Sandhoff disease, late-onset Tay-Sachs disease, adult-onset Tay-Sachs disease, late onset Tay Sachs disease, adult onset Tay Sachs disease, retrospective, hexosaminidase A activity, GM2-ganglioside, gangliosidoses, natural history, hexosaminidase