Gene Therapy for Tay-Sachs Disease

Sandhoff Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01869270
• Other study ID #: 0905M66723
• Secondary ID: U54NS065768
• Status: Completed
• Phase: N/A
• First received: May 22, 2013
• Last updated: December 3, 2014
• Start date: December 2010
• Est. completion date: August 2014

Study information

• Verified date: December 2014
• Source: University of Minnesota - Clinical and Translational Science Institute
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 4
• Est. completion date: August 2014
• Est. primary completion date: July 2014
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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 Design

Observational Model: Cohort, Time Perspective: Retrospective

Related Conditions & MeSH terms

• Late Onset Tay Sachs Disease
• Sandhoff Disease
• Tay Sachs Disease
• Tay-Sachs Disease

Locations

Country	Name	City	State
United States	University of Minnesota	Minneapolis	Minnesota
United States	Data Management and Coordinating Center (DMCC), Univ. of South Florida	Tampa	Florida

Sponsors (5)

Lead Sponsor	Collaborator
University of Minnesota - Clinical and Translational Science Institute	National Center for Advancing Translational Science (NCATS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institute of Neurological Disorders and Stroke (NINDS), Rare Diseases Clinical Research Network

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	No
Secondary	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.	No
Secondary	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.	No

External Links

•   Rare Diseases Clinical Research Network