[HTML][HTML] Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy

AM Bradbury, JN Cochran, VJ McCurdy, AK Johnson… - Molecular Therapy, 2013 - cell.com
AM Bradbury, JN Cochran, VJ McCurdy, AK Johnson, BL Brunson, H Gray-Edwards…
Molecular Therapy, 2013cell.com
Salutary responses to adeno-associated viral (AAV) gene therapy have been reported in the
mouse model of Sandhoff disease (SD), a neurodegenerative lysosomal storage disease
caused by deficiency of β-N-acetylhexosaminidase (Hex). While untreated mice reach the
humane endpoint by 4.1 months of age, mice treated by a single intracranial injection of
vectors expressing human hexosaminidase may live a normal life span of 2 years. When
treated with the same therapeutic vectors used in mice, two cats with SD lived to 7.0 and 8.2 …
Salutary responses to adeno-associated viral (AAV) gene therapy have been reported in the mouse model of Sandhoff disease (SD), a neurodegenerative lysosomal storage disease caused by deficiency of β-N-acetylhexosaminidase (Hex). While untreated mice reach the humane endpoint by 4.1 months of age, mice treated by a single intracranial injection of vectors expressing human hexosaminidase may live a normal life span of 2 years. When treated with the same therapeutic vectors used in mice, two cats with SD lived to 7.0 and 8.2 months of age, compared with an untreated life span of 4.5 ± 0.5 months (n = 11). Because a pronounced humoral immune response to both the AAV1 vectors and human hexosaminidase was documented, feline cDNAs for the hexosaminidase α- and β-subunits were cloned into AAVrh8 vectors. Cats treated with vectors expressing feline hexosaminidase produced enzymatic activity >75-fold normal at the brain injection site with little evidence of an immune infiltrate. Affected cats treated with feline-specific vectors by bilateral injection of the thalamus lived to 10.4 ± 3.7 months of age (n = 3), or 2.3 times as long as untreated cats. These studies support the therapeutic potential of AAV vectors for SD and underscore the importance of species-specific cDNAs for translational research.
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