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Sponsored by: |
University of Minnesota |
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Information provided by: | University of Minnesota |
ClinicalTrials.gov Identifier: | NCT00668187 |
Retrospective: Study the developmental course of the spectrum of patients with hexosaminidase deficiency, infantile Tay-Sachs disease, from retrospective data to establish a historical control specifically for a gene therapy trial. To create a quantitative and qualitative natural history of infantile Tay-Sachs disease.
Prospective: Will characterize the developmental course of infants with Tay-Sachs disease and longitudinally examine individual growth trajectories.
Condition |
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Tay Sachs Disease |
Study Type: | Observational |
Study Design: | Cohort, Retrospective |
Official Title: | A Natural History Study of Hexosaminidase Deficiency in Infantile Tay-Sachs Disease |
Estimated Enrollment: | 200 |
Study Start Date: | April 2008 |
Estimated Study Completion Date: | April 2009 |
Estimated Primary Completion Date: | April 2009 (Final data collection date for primary outcome measure) |
The infantile form (Classic Infantile) is the most common. Infants with Tay-Sachs disease appear normal at birth but begin to manifest progressive weakness, loss of muscle strength such as sitting up or turning over, deafness, and decreased attentiveness at approximately 6-10 months. This is followed by rapid deterioration of motor and slowed mental development (neurodegeneration), often with seizures. Retinal involvement leads to visual impairment and eventual blindness. Death typically occurs by the age of five.Currently there is no treatment for Tay-Sachs disease.
This study will focus on the developmental course of the spectrum of patients with hexosaminidase deficiency, infantile Tay-Sachs disease, from retrospective data to establish a historical control specifically for a gene therapy trial. The data from this study will be necessary to provide end-points for future therapies, guide medical decisions about treatment, provide objective measurement of treatment outcomes, and accurately inform parents regarding potential outcomes.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Study population will include subjects that are believed to have infantile form of Tay-Sachs disease. All subjects identified with Hexosaminidase A deficiency may participate in the study in order to collect data for subsequent natural history studies for both juvenile and late onset forms; however, the current study will analyze infantile Tay-Sachs patients as this is the population that will be selected for the gene therapy study.
Inclusion Criteria:
Exclusion Criteria:
Contact: Kendra J. Bjoraker, Ph.D. | 612-624-5653 | bjora002@umn.edu |
Contact: Chester B. Whitley, Ph.D., M.D. | 612-625-7422 | whitley@umn.edu |
United States, Minnesota | |
University of Minnesota - Division of Pediatric Clinical Neuroscience | Recruiting |
Minneapolis, Minnesota, United States, 55455 | |
Contact: Kendra J. Bjoraker, Ph.D. 612-624-5653 bjora002@umn.edu | |
Contact: Chester B. Whitley, M.D., Ph.D. 612-625-7422 whitley@umn.edu |
Principal Investigator: | Kendra J Bjoraker, Ph.D. | University of Minnesota |
Responsible Party: | University of Minnesota ( Kendra J. Bjoraker, Ph.D. Assistant Professor ) |
Study ID Numbers: | 0801M24964 |
Study First Received: | April 25, 2008 |
Last Updated: | June 16, 2008 |
ClinicalTrials.gov Identifier: | NCT00668187 |
Health Authority: | United States: Institutional Review Board |
Tay Sachs Disease Hexosaminidase A deficiency Infantile Tay Sachs Retrospective Natural History |
Lipid Metabolism, Inborn Errors Gangliosidosis (GM2) Type1 Sphingolipidoses Metabolic Diseases Lysosomal Storage Diseases Sphingolipidosis Central Nervous System Diseases Tay-Sachs disease Brain Diseases Metabolism, Inborn Errors |
Genetic Diseases, Inborn Gangliosidoses, GM2 Brain Diseases, Metabolic, Inborn Lipidoses Metabolic disorder Tay-Sachs Disease Gangliosidoses Lipid Metabolism Disorders Brain Diseases, Metabolic |
Lysosomal Storage Diseases, Nervous System Nervous System Diseases |