Gene Therapy for Tay-Sachs Disease | NCT01869270

Studies
Gene Therapy for Tay-Sachs Disease

NCT01869270

Sponsor

University of Minnesota

Status

Completed

Last Update Posted

Dec 4, 2014Estimated

Enrollment

4Actual

Phase

Not provided

Conditions

Tay Sachs Disease
Sandhoff Disease
Late Onset Tay Sachs Disease

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
U54NS065768	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Dec 2014

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Dec 2010

Primary Completion Date

Jul 2014Actual

Completion Date

Aug 2014Actual

First Submitted Date

May 22, 2013

First Submission Date that Met QC Criteria

May 30, 2013

First Posted Date

Jun 5, 2013Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Dec 3, 2014

Last Update Posted Date

Dec 4, 2014Estimated

Sponsor/Collaborators Module

Responsible Party, by Official Title

Sponsor

Lead Sponsor

University of MinnesotaOTHER

Collaborators

Name	Class
Rare Diseases Clinical Research Network	NETWORK
National Center for Advancing Translational Sciences (NCATS)	NIH
National Institute of Neurological Disorders and Stroke (NINDS)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

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.

Conditions Module

Conditions

Tay Sachs Disease
Sandhoff Disease
Late Onset Tay Sachs Disease

Keywords

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

4Actual

Outcomes Module

Primary Outcomes

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 Outcomes

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.

Other Outcomes

Not provided

Eligibility Module

Eligibility 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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Chester B. Whitley, PhD, MD	University of Minnesota	Principal Investigator
Jeffrey Krischer, PhD	University of South Florida	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Data Management and Coordinating Center (DMCC), Univ. of South Florida		Tampa	Florida	33612	United States

Condition Browse Module

MeSH Terms

ID	Term
D013661	Tay-Sachs Disease
D012497	Sandhoff Disease
D020143	Gangliosidoses, GM2
D005733	Gangliosidoses

Ancestor Terms

ID	Term
D013106	Sphingolipidoses
D020140	Lysosomal Storage Diseases, Nervous System
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic

Browse Leaves

Not provided

Browse Branches

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