Gene Therapy for Tay-Sachs Disease

NCT01869270 | Completed DMC

• 2 other identifiers: 0905M66723U54NS065768
• Study Type: observational
• Target: 4
• Locations: 1 country
• Sites: 2

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.

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

Outcome Measures

Primary Outcomes (1)

• Biomarkers

  Biomarkers data to be collected include: 1. CSF (cerebro-spinal fluid) hexosaminidase A activity 2. CSF GM2-ganglioside 3. CSF protein 4. CSF chitotriosidase

  Participants will be followed for the duration of the study, an expected average of two years.

Secondary Outcomes (2)

• Results of Ancillary Therapies or Treatments

  Participants will be followed for the duration of the study, an expected average of two years.

• Clinical Indicators

  Participants will be followed for the duration of the study, an expected average of two years.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• Any person who has been diagnosed with a hexosaminidase deficiency disease can be included in this study.

Sponsors & Collaborators

• University of Minnesota: lead
• Rare Diseases Clinical Research Network: collaborator
• National Center for Advancing Translational Sciences (NCATS): collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator

Study Sites (2)

Data Management and Coordinating Center (DMCC), Univ. of South Florida

Tampa, Florida, 33612, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

MeSH Terms

Conditions

Tay-Sachs Disease; Sandhoff Disease; Gangliosidoses, GM2; Gangliosidoses

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Chester B. Whitley, PhD, MD

  University of Minnesota

  PRINCIPAL INVESTIGATOR

• Jeffrey Krischer, PhD

  University of South Florida

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 22, 2013
• First Posted: June 5, 2013
• Study Start: December 1, 2010
• Primary Completion: July 1, 2014
• Study Completion: August 1, 2014
• Last Updated: December 4, 2014

Record last verified: 2014-12

Locations

US (2)