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WHICH MUTATIONS ARE AMENABLE TO EXON 51 SKIPPING?2-4

For exon skipping to work, exon 51 must be present in the patient's DMD gene. 

 

Mutation amendable to exon 51 skipping

EXPLORE THE DMD OPEN-ACCESS VARIANT EXPLORER (DOVE), A TOOL TO AGGREGATE CLINICALLY RELEVANT INFORMATION RELATED TO VARIANTS IN THE DMD GENE, AT DMD.NL/DOVE

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INDICATION

EXONDYS 51 (eteplirsen) is indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping. This indication is approved under accelerated approval based on an increase in dystrophin in skeletal muscle observed in some patients treated with EXONDYS 51. Continued approval for this indication may be contingent upon verification of a clinical benefit in confirmatory trials.

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IMPORTANT SAFETY INFORMATION

Hypersensitivity reactions, including bronchospasm, chest pain, cough, tachycardia and urticaria, have occurred in patients who were treated with EXONDYS 51. If a hypersensitivity reaction occurs, institute appropriate medical treatment and consider slowing the infusion or interrupting the EXONDYS 51 therapy.

Adverse reactions in DMD patients (N=8) treated with EXONDYS 51 30 or 50 mg/kg/week by intravenous (IV) infusion with an incidence of at least 25% more than placebo (N=4) (Study 1, 24 weeks) were (EXONDYS 51, placebo): balance disorder (38%, 0%), vomiting (38%, 0%) and contact dermatitis (25%, 0%). The most common adverse reactions were balance disorder and vomiting. Because of the small numbers of patients, these represent crude frequencies that may not reflect the frequencies observed in practice. The 50 mg/kg once weekly dosing regimen of EXONDYS 51 is not recommended.

The most common adverse reactions from observational clinical studies (N=163) seen in greater than 10% of patients were headache, cough, rash, and vomiting.

Please see the full Prescribing Information for EXONDYS 51 (eteplirsen).

 

 

References

  1. EXONDYS 51 [package insert]. Cambridge, MA: Sarepta Therapeutics Inc.
  2. Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic testing for Duchenne muscular dystrophy. J Med Genet. 2016;0:1-7.
  3. den Dunnen JT. Leiden Muscular Dystrophy pages. Leiden, Netherlands: Center for Human and Clinical Genetics, Leiden University Medical Center; 2003. Available at dmd.nl. Accessed February 15, 2022.
  4. Fletcher S, Adams AM, Johnsen RD, et al. Mol. Ther. 2010;18(6): 1218-1223.
  5. Aartsma-Rus A, et al. Theoretic applicability of anitsense-mediated exon skipping for Duchenne muscular dystrophy mutations. Human Mutation. 2009;X:1-7.