CPC A61K 38/1709 (2013.01) [A61K 31/7088 (2013.01); A61K 48/00 (2013.01); A61K 48/005 (2013.01); A61K 48/0008 (2013.01); A61K 48/0075 (2013.01); C07K 14/4702 (2013.01); C12N 7/00 (2013.01); C12N 15/86 (2013.01); C12N 2750/14121 (2013.01); C12N 2750/14133 (2013.01); C12N 2750/14143 (2013.01); C12N 2750/14171 (2013.01)] | 20 Claims |
1. A method of treating spinal muscular atrophy (SMA) comprising administering to a subject in need thereof a therapeutically effective amount of recombinant adeno-associated virus (rAAV) virions comprising a self-complementary adeno-associated virus (scAAV) vector comprising a heterologous nucleic acid construct, wherein the heterologous nucleic acid construct comprises:
a. a first AAV2 inverted terminal repeat (ITR);
b. a cytomegalovirus enhancer/chicken-β actin (CBA) promoter;
c. a polynucleotide encoding a survival motor neuron (SMN) protein comprising the amino acid sequence of SEQ ID NO: 2; and
d. a second AAV2 ITR, and
wherein the rAAV virions comprise an AAV8 or AAV9 capsid, and
wherein the scAAV virions are administered via intrathecal injection.
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