Clinical Outcome Measures for a
Gene
Therapy Trial in Infantile and Juvenile GM2
(Tay-Sachs Gene Therapy Consortium)
Description: This proposal will prospectively describe the natural history and validate severity scores in childhood GM2 gangliosidoses It will also assist in protocol development and trial design for gene therapy treatment.
Benefit: It will identify the target population and clinical endpoints in both infantile and juvenile populations. It will be vital in addressing questions of patients and families, medical practitioners and regulatory agencies.
Look in our library for the 12 month progress report.
Look in our library for the “Natural History of Infantile GM2 Gangliosidosis” article that was published in Pediatrics.
Optimization of Efficacious Gene
Therapy for Canavan Disease
Description: The investigator will perform gene therapy experiments in a
mouse model of Canavan disease to identify the best route of administration and determine the time window of treatment.
Benefit: The project will provide critical information required to advance and translate this gene therapy to application in humans. Gene therapy given intravenously offers a safer method of delivery.
Look in our library for the 6 month progress report.
Look in our library for the Final Report.
Studies of Taurine-Conjugated GM2
in Tay - Sachs Disease
Description: The goal of the proposal is to develop an assay for the detection of taurine-conjugated GM2 in the Tay-Sachs disease brain. Taurine conjugation is an established mechanism for detoxification, which means getting rid of the
substrate, GM2, in this case.
Benefit: The information will be useful for identifying affected individuals that might benefit from therapy and to determine if taurine conjugation is a way to get rid of GM2. This new concept may lead to developing a novel therapeutic strategy for Tay-Sachs disease.
Look in our library for the 6 month progress report.
