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Gene Therapy for Tay-Sachs Disease

NCT ID: NCT01869270

Last Updated: 2014-12-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

4 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-12-31

Study Completion Date

2014-08-31

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.

Conditions

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Tay Sachs Disease Sandhoff Disease Late Onset Tay Sachs Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Rare Diseases Clinical Research Network

NETWORK

Sponsor Role collaborator

National Center for Advancing Translational Sciences (NCATS)

NIH

Sponsor Role collaborator

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

NIH

Sponsor Role collaborator

University of Minnesota

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Chester B. Whitley, PhD, MD

Role: PRINCIPAL_INVESTIGATOR

University of Minnesota

Jeffrey Krischer, PhD

Role: PRINCIPAL_INVESTIGATOR

University of South Florida

Locations

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Data Management and Coordinating Center (DMCC), Univ. of South Florida

Tampa, Florida, United States

Site Status

University of Minnesota

Minneapolis, Minnesota, United States

Site Status

Countries

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United States

Other Identifiers

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U54NS065768

Identifier Type: NIH

Identifier Source: secondary_id

View Link

0905M66723

Identifier Type: -

Identifier Source: org_study_id