One of the most common types of mutations in the dystrophin gene occurs when a piece of the code in the middle of the gene is missing or deleted. By skipping additional segments of the dystrophin code called exons, the deletion can shift from an out-of-frame deletion to an in-frame deletion. Typically an in-frame deletion results in a smaller, but still functional, dystrophin protein. This shortened protein is expected to act in a similar way to normal dystrophin, and so relieve some symptoms of Duchenne and hopefully result in a more mild presentation. EXONDY 51® is for use in patients with a mutation in the dystrophin gene that is amenable to exon 51 skipping.

Status

EXONDYS 51 is indicated for the treatment of Duchenne in patients who have a confirmed mutation of the dystrophin gene that is amenable to exon 51 skipping (FDA label document). This indication is approved under accelerated approval based on an increase in dystrophin in skeletal muscle observed in some patients treated with EXONDYS 51. A clinical benefit of EXONDYS 51 has not been established. Continued approval for this indication may be contingent upon verification of a clinical benefit in confirmatory trials.

For additional resources regarding eligibility and access, view PPMD’s Insurance Access & Coverage Roadmap.

Sponsor

This program is sponsored by Sarepta Therapeutics.

Related Studies

Media Library