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Report Summary

NOVEL VECTOR DESIGN AND HEXOSAMINIDASE VARIANT ENABLING SELF- COMPLEMENTARY AAV FOR THE TREATMENT OF TAY-SACHS DISEASE


Study Summary

Overall Study Design 
 
We report the design of a compact AAV genome using a synthetic promoter-intron combination to allow self-
complementary sc packaging of the HEXM gene Also a previously published capsid mutant AAV947 was 
utilized to deliver the gene to brain and spinal cord while having restricted biodistribution to the liver The novel 
capsid and cassette design combination was characterized in vivo in TSD mice for its ability to efficiently 
transduce cells in the central nervous system when delivered intravenously in both adult and neonatal mice This 
study demonstrates that the modified HexM is capable of degrading long-standing GM2 storage in mice and it 
further demonstrates the potential of this novel scAAV vector design to facilitate widespread distribution of the 
HEXM gene or potentially other similar-sized genes to the nervous system 

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    Lorraine Matheson
    NGVB Biorepository Manager
    317-274-4519
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