US2021108209A1PendingUtilityA1

Products and Methods for Treatment of Familial Amyotrophic Lateral Sclerosis

Assignee: RES INST NATIONWIDE CHILDRENS HOSPITALPriority: Aug 27, 2013Filed: Aug 19, 2020Published: Apr 15, 2021
Est. expiryAug 27, 2033(~7.1 yrs left)· nominal 20-yr term from priority
C12N 2750/14143C12N 9/0089C12N 15/1137C12N 2310/531C12N 15/86C12N 2320/32A61K 31/7105A61P 25/02C12N 2310/14A61K 9/0019C12Y 115/01001C12N 2750/14043A61P 25/28C12N 7/00
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Claims

Abstract

The present invention relates to RNA-based methods for inhibiting the expression of the superoxide dismutase 1 (SOD-1) gene. Recombinant adeno-associated viruses of the invention deliver DNAs encoding RNAs that knock down the expression of SOD-1. The methods have application in the treatment of amyotrophic lateral sclerosis.

Claims

exact text as granted — not AI-modified
1 - 3 . (canceled) 
     
     
         4 . A method of delivering a SOD1 shRNA-encoding DNA, to a subject in need thereof, comprising administering to the subject a recombinant adeno-associated virus comprising the SOD1 shRNA-encoding DNA, a sequence selected from the group consisting of: 
       
         
           
                 
                 
               
                     
                   (SEQ ID NO: 1) 
                 
                     
                   GCATCATCAATTTCGAGCAGAAGGAA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 2) 
                 
                     
                   GAAGCATTAAAGGACTGACTGAA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 3) 
                 
                     
                   CTGACTGAAGGCCTGCATGGATT, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 4) 
                 
                     
                   CATGGATTCCATGTTCATGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 5) 
                 
                     
                   GCATGGATTCCATGTTCATGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 6) 
                 
                     
                   GGTCTGGCCTATAAAGTAGTC, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 7) 
                 
                     
                   GGGCATCATCAATTTCGAGCA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 8) 
                 
                     
                   GCATCATCAATTTCGAGCAGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 9) 
                 
                     
                   GCCTGCATGGATTCCATGTTC, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 10) 
                 
                     
                   GGAGGTCTGGCCTATAAAGTA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 11) 
                 
                     
                   GATTCCATGTTCATGAGTTTG, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 12) 
                 
                     
                   GGAGATAATACAGCAGGCTGT, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 13) 
                 
                     
                   GCTTTAAAGTACCTGTAGTGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 14) 
                 
                     
                   GCATTAAAGGACTGACTGAAG, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 16) 
                 
                     
                   TCGAGCAGAAGGAAAGTAA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 17) 
                 
                     
                   GCCTGCATGGATTCCATGT, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 18) 
                 
                     
                   TCACTCTCAGGAGACCATT, 
                 
                     
                   and 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 19) 
                 
                     
                   GCTTTAAAGTACCTGTAGT; 
                 
             
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
               
            
           
         
         wherein the recombinant adeno-associated virus genome lacks rep and cap genes. 
       
     
     
         5 - 11 . (canceled) 
     
     
         12 . The method of  claim 4 , wherein the subject has amyotrophic lateral sclerosis (ALS). 
     
     
         13 . The method of  claim 12 , wherein the ALS is associated with one or more SOD1 mutations. 
     
     
         14 . The method of  claim 4 , wherein the adeno-associated virus further comprises an H1 promoter operably linked to the SOD1 shRNA-encoding DNA. 
     
     
         15 . The method of  claim 14 , wherein the H1 promoter comprises nucleotides 966 to 1064 of SEQ ID NO:20. 
     
     
         16 . The method of  claim 4 , wherein the virus genome is a self-complementary genome. 
     
     
         17 . The method of  claim 4 , wherein the recombinant adeno-associated virus is an rAAV2, rAAV9 or rAAVrh74 virus. 
     
     
         18 . The method of  claim 17 , wherein the recombinant adeno-associated virus is rAAV9. 
     
     
         19 . The method of  claim 4 , wherein the adeno-associated virus further comprises a stuffer sequence. 
     
     
         20 . The method of  claim 19 , wherein the stuffer sequence comprises SEQ ID NO: 22. 
     
     
         21 . The method of  claim 4 , wherein the SOD1 shRNA-encoding DNA comprises SEQ ID NO: 4. 
     
     
         22 . The method of  claim 4 , wherein the SOD1 shRNA-encoding DNA comprises, from 5′ to 3′: a) nucleotides 104-123 of SEQ ID NO: 21; b) a stem loop; and c) nucleotides 133-152 of SEQ ID NO: 21. 
     
     
         23 . The method of  claim 4 , wherein recombinant adeno-associated virus is administered by parenteral, intravenous, intrathecal introcerebroventricular, or cisterna magna administration. 
     
     
         24 . The method of  claim 23 , wherein the recombinant adeno-associated virus is administered by intrathecal administration. 
     
     
         25 . The method of  claim 24 , wherein the intrathecal administration is by lumbar puncture. 
     
     
         26 . A superoxide dismutase 1 (SOD1) shRNA-encoding DNA comprising: 
       
         
           
                 
                 
               
                     
                   (SEQ ID NO: 1) 
                 
                     
                   GCATCATCAATTTCGAGCAGAAGGAA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 2) 
                 
                     
                   GAAGCATTAAAGGACTGACTGAA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 3) 
                 
                     
                   CTGACTGAAGGCCTGCATGGATT, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 4) 
                 
                     
                   CATGGATTCCATGTTCATGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 5) 
                 
                     
                   GCATGGATTCCATGTTCATGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 6) 
                 
                     
                   GGTCTGGCCTATAAAGTAGTC, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 7) 
                 
                     
                   GGGCATCATCAATTTCGAGCA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 8) 
                 
                     
                   GCATCATCAATTTCGAGCAGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 9) 
                 
                     
                   GCCTGCATGGATTCCATGTTC, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 10) 
                 
                     
                   GGAGGTCTGGCCTATAAAGTA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 11) 
                 
                     
                   GATTCCATGTTCATGAGTTTG, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 12) 
                 
                     
                   GGAGATAATACAGCAGGCTGT, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 13) 
                 
                     
                   GCTTTAAAGTACCTGTAGTGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 14) 
                 
                     
                   GCATTAAAGGACTGACTGAAG, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 16) 
                 
                     
                   TCGAGCAGAAGGAAAGTAA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 17) 
                 
                     
                   GCCTGCATGGATTCCATGT, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 18) 
                 
                     
                   TCACTCTCAGGAGACCATT, 
                 
                     
                   or 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 19) 
                 
                     
                   GCTTTAAAGTACCTGTAGT. 
                 
             
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
               
            
           
         
       
     
     
         27 . A DNA plasmid comprising a recombinant adeno-associated virus genome comprising a superoxide dismutase 1 (SOD1) shRNA-encoding DNA comprising a sequence selected from the group consisting of: 
       
         
           
                 
                 
               
                     
                   (SEQ ID NO: 1) 
                 
                     
                   GCATCATCAATTTCGAGCAGAAGGAA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 2) 
                 
                     
                   GAAGCATTAAAGGACTGACTGAA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 3) 
                 
                     
                   CTGACTGAAGGCCTGCATGGATT, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 4) 
                 
                     
                   CATGGATTCCATGTTCATGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 5) 
                 
                     
                   GCATGGATTCCATGTTCATGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 6) 
                 
                     
                   GGTCTGGCCTATAAAGTAGTC, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 7) 
                 
                     
                   GGGCATCATCAATTTCGAGCA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 8) 
                 
                     
                   GCATCATCAATTTCGAGCAGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 9) 
                 
                     
                   GCCTGCATGGATTCCATGTTC, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 10) 
                 
                     
                   GGAGGTCTGGCCTATAAAGTA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 11) 
                 
                     
                   GATTCCATGTTCATGAGTTTG, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 12) 
                 
                     
                   GGAGATAATACAGCAGGCTGT, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 13) 
                 
                     
                   GCTTTAAAGTACCTGTAGTGA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 14) 
                 
                     
                   GCATTAAAGGACTGACTGAAG, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 16) 
                 
                     
                   TCGAGCAGAAGGAAAGTAA, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 17) 
                 
                     
                   GCCTGCATGGATTCCATGT, 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 18) 
                 
                     
                   TCACTCTCAGGAGACCATT, 
                 
                     
                   and 
                 
                     
                     
                 
                     
                   (SEQ ID NO: 19) 
                 
                     
                   GCTTTAAAGTACCTGTAGT, 
                 
             
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
               
            
           
         
         wherein the recombinant adeno-associated virus genome lacks rep and cap genes. 
       
     
     
         28 . A packaging cell comprising the DNA plasmid of  claim 27 .

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