Gene Therapy for Tay-Sachs Disease

Sponsor

University of Minnesota (Other)

Overall Status

Completed

CT.gov ID

NCT01869270

Collaborator

Rare Diseases Clinical Research Network (Other), National Center for Advancing Translational Science (NCATS) (NIH), National Institute of Neurological Disorders and Stroke (NINDS) (NIH), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (NIH)

Enrollment

Locations

Duration (Months)

Patients Per Site

Patients Per Site Per Month

Study Details

Study Description

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	Intervention/Treatment	Phase
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

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 :

Dec 1, 2010

Actual Primary Completion Date :

Jul 1, 2014

Actual Study Completion Date :

Aug 1, 2014

Outcome Measures

Primary Outcome Measures

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

Secondary Outcome Measures

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: 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

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Locations

	Site	City	State	Country	Postal Code
1	Data Management and Coordinating Center (DMCC), Univ. of South Florida	Tampa	Florida	United States	33612
2	University of Minnesota	Minneapolis	Minnesota	United States	55455