Patent ID: 11911440
Assignee: GENZYME CORPORATION
Field: Pharmaceuticals (Chemistry)
Classification: CPC A  C | IPC A  C

Claim 4:
5. A method of expressing survival motor neuron (SMN) protein in motor neurons of the spinal cord comprising administering to a subject in need thereof a therapeutically effective amount of recombinant adeno-associated virus (rAAV) virions, wherein the rAAV virions comprise a self-complementary adeno-associated virus (scAAV) vector comprising a heterologous nucleic acid construct,
wherein the subject has spinal muscular atrophy (SMA), 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 rAAV virions are administered via intrathecal injection.