US2023110479A1PendingUtilityA1

Exon skipping oligomer conjugates for muscular dystrophy

Assignee: SAREPTA THERAPEUTICS INCPriority: May 29, 2018Filed: Apr 27, 2022Published: Apr 13, 2023
Est. expiryMay 29, 2038(~11.8 yrs left)· nominal 20-yr term from priority
A61K 47/6807A61K 47/6455C12N 2310/11C12N 15/113C12N 2310/3233C12N 15/111C12N 2310/3513C12N 2320/33C12N 15/62A61K 9/0019C07K 14/4707A61P 21/00
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Claims

Abstract

Antisense oligomer conjugates complementary to a selected target site in the human dystrophin gene to induce exon 52 skipping are described.

Claims

exact text as granted — not AI-modified
1 . An antisense oligomer conjugate of Formula (I): 
       
         
           
           
               
               
           
         
         or a pharmaceutically acceptable salt thereof, wherein: 
         each Nu is a nucleobase which taken together form a targeting sequence; and 
         T is a moiety selected from: 
       
       
         
           
           
               
               
           
         
         R 1  is C 1 -C 6  alkyl; 
         wherein the targeting sequence is complementary to an exon 52 annealing site in the dystrophin pre-mRNA designated as H52A(−01+24). 
       
     
     
         2 . The antisense oligomer conjugate of  claim 1 , wherein each Nu is independently selected from cytosine (C), guanine (G), thymine (T), adenine (A), 5-methylcytosine (5 mC), uracil (U), and hypoxanthine (I). 
     
     
         3 . The antisense oligomer conjugate of  claim 1 , wherein the targeting sequence is SEQ ID NO: 1 (5′-CTGTTCCAAATCCTGCATTGTTGCC-3′), wherein each thymine (T) is optionally uracil (U). 
     
     
         4 . The antisense oligomer conjugate of  claim 1 , wherein T is 
       
         
           
           
               
               
           
         
         and the targeting sequence is SEQ ID NO: 1 (5′-CTGTTCCAAATCCTGCATTGTTGCC-3′), wherein each thymine (T) is optionally uracil (U). 
       
     
     
         5 . The antisense oligomer conjugate of  claim 1 , wherein T is 
       
         
           
           
               
               
           
         
         and the targeting sequence is SEQ ID NO: 1 (5′-CTGTTCCAAATCCTGCATTGTTGCC-3′). 
       
     
     
         6 . An antisense oligomer conjugate of Formula (II): 
       
         
           
           
               
               
           
         
         or a pharmaceutically acceptable salt thereof, wherein each Nu from 1 to 25 and 5′ to 3′ is: 
       
       
         
           
                 
                 
               
                     
                 
                   Position No. 5′ to 3′ 
                   Nu 
                 
                     
                 
                     
                 
                 
                 
               
                   1 
                   C 
                 
                   2 
                   X 
                 
                   3 
                   G 
                 
                   4 
                   X 
                 
                   5 
                   X 
                 
                   6 
                   C 
                 
                   7 
                   C 
                 
                   8 
                   A 
                 
                   9 
                   A 
                 
                   10 
                   A 
                 
                   11 
                   X 
                 
                   12 
                   C 
                 
                   13 
                   C 
                 
                   14 
                   X 
                 
                   15 
                   G 
                 
                   16 
                   C 
                 
                   17 
                   A 
                 
                   18 
                   X 
                 
                   19 
                   X 
                 
                   20 
                   G 
                 
                   21 
                   X 
                 
                   22 
                   X 
                 
                   23 
                   G 
                 
                   24 
                   C 
                 
                   25 
                   C 
                 
                     
                 
             
                
                
                
               
               
                
               
            
             
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
               
            
           
         
       
       and wherein A is 
       
         
           
           
               
               
           
         
       
       C is 
       
         
           
           
               
               
           
         
       
       G is 
       
         
           
           
               
               
           
         
       
       and each X is independently 
       
         
           
           
               
               
           
         
       
     
     
         7 . The antisense oligomer conjugate of  claim 6 , wherein each X is 
       
         
           
           
               
               
           
         
       
     
     
         8 . The antisense oligomer conjugate of  claim 6 , wherein the antisense oligomer is of Formula (IIA): 
       
         
           
           
               
               
           
         
         wherein each Nu from 1 to 25 and 5′ to 3′ is: 
       
       
         
           
                 
                 
               
                     
                 
                   Position No. 5′ to 3′ 
                   Nu 
                 
                     
                 
                     
                 
                 
                 
               
                   1 
                   C 
                 
                   2 
                   X 
                 
                   3 
                   G 
                 
                   4 
                   X 
                 
                   5 
                   X 
                 
                   6 
                   C 
                 
                   7 
                   C 
                 
                   8 
                   A 
                 
                   9 
                   A 
                 
                   10 
                   A 
                 
                   11 
                   X 
                 
                   12 
                   C 
                 
                   13 
                   C 
                 
                   14 
                   X 
                 
                   15 
                   G 
                 
                   16 
                   C 
                 
                   17 
                   A 
                 
                   18 
                   X 
                 
                   19 
                   X 
                 
                   20 
                   G 
                 
                   21 
                   X 
                 
                   22 
                   X 
                 
                   23 
                   G 
                 
                   24 
                   C 
                 
                   25 
                   C 
                 
                     
                 
             
                
                
                
               
               
                
               
            
             
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
                
               
            
           
         
         and wherein A is 
       
       
         
           
           
               
               
           
         
          C is 
       
       
         
           
           
               
               
           
         
          G is 
       
       
         
           
           
               
               
           
         
          and each X is independently 
       
       
         
           
           
               
               
           
         
       
     
     
         9 . The antisense oligomer conjugate of  claim 8 , wherein each X is 
       
         
           
           
               
               
           
         
       
     
     
         10 - 11 . (canceled) 
     
     
         12 . A pharmaceutical composition, comprising an antisense oligomer conjugate of  claim 1 , or a pharmaceutically acceptable salt thereof, and a pharmaceutically acceptable carrier. 
     
     
         13 . A method for treating Duchenne muscular dystrophy (DMD) in a subject in need thereof wherein the subject has a mutation of the dystrophin gene that is amenable to exon 52 skipping, the method comprising administering to the subject the antisense oligomer conjugate of  claim 1 . 
     
     
         14 . The method of  claim 13 , wherein the antisense oligomer conjugate is administered weekly. 
     
     
         15 . The method of  claim 13 , wherein the antisense oligomer conjugate is administered biweekly. 
     
     
         16 . The method of  claim 13 , wherein the antisense oligomer conjugate is administered every third week. 
     
     
         17 . The method of  claim 13 , wherein the antisense oligomer conjugate is administered monthly. 
     
     
         18 . The method of  claim 13 , wherein the antisense oligomer conjugate is administered at a dose selected from about 30 mg/kg, about 40 mg/kg, about 60 mg/kg, about 80 mg/kg, and about 160 mg/kg. 
     
     
         19 - 24 . (canceled) 
     
     
         25 . A method for treating Duchenne muscular dystrophy (DMD) in a subject in need thereof wherein the subject has a mutation of the dystrophin gene that is amenable to exon 52 skipping, the method comprising administering to the subject the pharmaceutical composition of  claim 12 . 
     
     
         26 . A method of restoring an mRNA reading frame to induce dystrophin production in a subject having a mutation of the dystrophin gene that is amenable to exon 52 skipping, the method comprising administering to the subject the pharmaceutical composition of  claim 12 . 
     
     
         27 . A method of excluding exon 52 from dystrophin pre-mRNA during mRNA processing in a subject having a mutation of the dystrophin gene that is amenable to exon 52 skipping, the method comprising administering to the subject the pharmaceutical composition of  claim 12 . 
     
     
         28 . A method of binding exon 52 of dystrophin pre-mRNA in a subject having a mutation of the dystrophin gene that is amenable to exon 52 skipping, the method comprising administering to the subject the pharmaceutical composition of  claim 12 .

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