Gene Therapy for Tay-Sachs Disease

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

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.

Study Overview

• Status: Completed
• Conditions: 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 Type: Observational
• Enrollment (Actual): 4

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

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

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

What is the study measuring?

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.

Collaborators and Investigators

• Sponsor: University of Minnesota
• Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National Institute of Neurological Disorders and Stroke (NINDS); Rare Diseases Clinical Research Network; National Center for Advancing Translational Sciences (NCATS)
• Investigators: Principal Investigator: Chester B. Whitley, PhD, MD, University of Minnesota; Principal Investigator: Jeffrey Krischer, PhD, University of South Florida

Study record dates

Study Major Dates

• Study Start: December 1, 2010
• Primary Completion (Actual): July 1, 2014
• Study Completion (Actual): August 1, 2014

Study Registration Dates

• First Submitted: May 22, 2013
• First Submitted That Met QC Criteria: May 30, 2013
• First Posted (Estimate): June 5, 2013

Study Record Updates

• Last Update Posted (Estimate): December 4, 2014
• Last Update Submitted That Met QC Criteria: December 3, 2014
• Last Verified: December 1, 2014

More Information

Terms related to this study

• Keywords: retrospective; natural history; Tay-Sachs disease; Sandhoff disease; gangliosidoses; hexosaminidase deficiency; late-onset Tay-Sachs disease; adult-onset Tay-Sachs disease; late onset Tay Sachs disease; adult onset Tay Sachs disease; hexosaminidase A activity; GM2-ganglioside; hexosaminidase
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Gangliosidoses, GM2; Gangliosidoses; Tay-Sachs Disease; Sandhoff Disease
• Other Study ID Numbers: 0905M66723; U54NS065768 (U.S. NIH Grant/Contract)