Gene Therapy for Tay-Sachs Disease

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.

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Key information

Conditions

Tay Sachs Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gangliosidoses Gangliosidoses, GM2 Genetic Diseases, Inborn Late Onset Tay Sachs Disease Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sandhoff Disease Sphingolipidoses Tay-Sachs Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

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

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

Biomarkers

Time frame: 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 outcomes

Results of Ancillary Therapies or Treatments

Time frame: 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

Time frame: 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

Sponsors and collaborators

Lead sponsor

University of Minnesota

Other

Collaborators

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

Registry information

Official study title

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

Important dates

Study start: 2010
Primary completion: 2014
Study completion: 2014
First posted: Jun 5, 2013
Registry last updated: Dec 4, 2014

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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