Exon-Skipping for Duchenne

EXON-SKIPPING FOR DUCHENNE

 
 
 
 
  • PROGRAM
  • DISCOVERY
  • preclinical
  • PHASE 1
  • PHASE 2
  • PHASE 3
 

RARE DISEASES

  • DMD EXON 51 (ETEPLIRSEN / AVI-4658)
  • DMD EXON 53 (SRP-4053)
  • DMD EXON 45 (SRP-4045)
  • DMD EXON 44
  • DMD EXON 52 (SRP-4052)
  • DMD EXON 50
  • DMD EXON 43
  • DMD EXON 55
  • DMD EXON 8
  • DMD EXON 35
  • NON-DMD TARGETS
 
 
 

RECENT PRESS RELEASES

     
     
     

    The underlying cause of DMD is a mutation or error in the gene for dystrophin, an essential protein involved in muscle fiber function.

    Our investigational therapies for DMD are designed to skip an exon in the dystrophin pre-mRNA to enable the synthesis of a shortened, functional form of dystrophin protein.

     
     
     
     
     

    Eteplirsen, our lead clinical candidate, is designed to skip exon 51. A candidate for exon 53 skipping (SRP-4053) is in clinical development, and a candidate for exon 45 skipping (SRP-4045) has entered early clinical development. We also have other drug candidates in discovery and preclinical development that are designed to skip exons 44, 52, 50, 43, 55, 8 and 35, and we are committed to exploring the potential of our technology to address all DMD patients who may be candidates for exon skipping.

    Source: Annemieke Aartsma-Rus, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy. Hum Mutat. 2009 Mar;30 (3):293-9.
    Note: The mutation data highlighted above is derived from the Leiden Duchenne Muscular Dystrophy Mutation Database, which includes a limited dataset.

     
     
     

    EXON SKIPPING: THE BASICS

    In DMD, exon skipping is a potential treatment approach to correct for specific genetic mutations and restore production of dystrophin protein.