Gene Therapy for Tay-Sachs Disease

Study Description

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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.

Condition or disease
Tay Sachs Disease; Sandhoff Disease; Late Onset Tay Sachs Disease

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.

Study Design

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Study Type :	Observational
Actual Enrollment :	4 participants
Observational Model:	Cohort
Time Perspective:	Retrospective
Official Title:	Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather)
Study Start Date :	December 2010
Actual Primary Completion Date :	July 2014
Actual Study Completion Date :	August 2014

Groups and Cohorts

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Outcome Measures

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Primary Outcome Measures :

1. 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

Secondary Outcome Measures :

1. 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.
2. 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

Eligibility Criteria

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Ages Eligible for Study:	Child, Adult, Older Adult
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Any person, living or dead, who has been diagnosed with a hexosaminidase deficiency disease

Criteria

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.

Contacts and Locations

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Locations

United States, Florida
Data Management and Coordinating Center (DMCC), Univ. of South Florida
Tampa, Florida, United States, 33612
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455

Sponsors and Collaborators

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)

Investigators

Principal Investigator:	Chester B. Whitley, PhD, MD	University of Minnesota - Clinical and Translational Science Institute
Principal Investigator:	Jeffrey Krischer, PhD	University of South Florida

More Information

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Additional Information:

Rare Diseases Clinical Research Network 

Responsible Party:	University of Minnesota - Clinical and Translational Science Institute
ClinicalTrials.gov Identifier:	NCT01869270 History of Changes
Other Study ID Numbers:	0905M66723; U54NS065768 ( U.S. NIH Grant/Contract )
First Posted:	June 5, 2013
Last Update Posted:	December 4, 2014
Last Verified:	December 2014

Keywords provided by University of Minnesota - Clinical and Translational Science Institute:

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; hexosaminidase deficiency	retrospective; hexosaminidase A activity; GM2-ganglioside; gangliosidoses; natural history; hexosaminidase

Additional relevant MeSH terms:

Tay-Sachs Disease; Sandhoff Disease; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn	Lysosomal Storage Diseases; Metabolic Diseases; Lipid Metabolism Disorders; Gangliosidoses, GM2; Gangliosidoses; Sphingolipidoses; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors