The Jett Foundation Fighting Duchenne Muscular Dystrophy

Genetics

The number one most important piece of information to know when your child is diagnosed with Duchenne muscular dystrophy is their genetic mutation.

With the recent FDA approval of Exondys 51, a targeted therapy that treats the 13% of the population amenable to the skipping of exon 51 on the dystrophin gene, the first treatment for Duchenne patients is now commercially available.

Other mutation specific, and non-mutation specific clinical trials are in progress and are currently enrolling. In order to enroll your child in any clinical trial for Duchenne, you must have their genetic report and understand their mutation and what treatment they may or may not be amenable to.

Below is a chart of the in-frame genetic mutations in Duchenne that can be treated by Exondys 51, or are in the drug development pipeline.

exon-skipping-chart

 

 

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