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Gene Therapy for Tay-Sachs Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2013 by University of Minnesota - Clinical and Translational Science Institute
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
Information provided by (Responsible Party):
University of Minnesota - Clinical and Translational Science Institute
ClinicalTrials.gov Identifier:
NCT01869270
First received: May 22, 2013
Last updated: December 17, 2013
Last verified: December 2013
  Purpose

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
Tay Sachs Disease
Sandhoff Disease
Late Onset Tay Sachs Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather)

Resource links provided by NLM:


Further study details as provided by University of Minnesota - Clinical and Translational Science Institute:

Primary Outcome Measures:
  • Biomarkers [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ] [ Designated as safety issue: No ]

    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:
  • Results of Ancillary Therapies or Treatments [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ] [ Designated as safety issue: No ]
    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 [ Time Frame: Participants will be followed for the duration of the study, an expected average of two years. ] [ Designated as safety issue: No ]

    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


Estimated Enrollment: 5
Study Start Date: December 2010
Estimated Study Completion Date: August 2014
Estimated Primary Completion Date: July 2014 (Final data collection date for primary outcome measure)
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.

  Eligibility

Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01869270

Contacts
Contact: Brenda Diethelm-Okita, MPA 612-625-1594 dieth001@umn.edu

Locations
United States, Florida
Data Management and Coordinating Center (DMCC), Univ. of South Florida Recruiting
Tampa, Florida, United States, 33612
Principal Investigator: Jeffrey Krischer, PhD         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55455
Principal Investigator: Chester B. Whitley, PhD, MD         
Sponsors and Collaborators
University of Minnesota - Clinical and Translational Science Institute
Rare Diseases Clinical Research Network
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

Additional Information:
No publications provided

Responsible Party: University of Minnesota - Clinical and Translational Science Institute
ClinicalTrials.gov Identifier: NCT01869270     History of Changes
Other Study ID Numbers: 0905M66723, U54NS065768
Study First Received: May 22, 2013
Last Updated: December 17, 2013
Health Authority: United States: Institutional Review Board

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

ClinicalTrials.gov processed this record on November 25, 2014