What’s your genetic profile?
New treatments target specific genetic mutations. If you have DMD, you need to obtain your genetic profile to find out if you are eligible for treatment with new biologic drugs.
Right now, two experimental drugs are seeking approval for use in children with DMD and one of two specific genetic mutations that affect the production of dystrophin, a protein essential for normal functioning muscles:
- Ataluren, which targets a nonsense mutation in the genetic machinery that builds dystrophin
- Eteplirsen, which skips exon 51 in the genetic blueprint for dystrophin to enable the body to produce a partly working protein
In Canada, ask your doctor to help you obtain your genetic profile and, when the results arrive, to explain your exact genetic mutation and available treatment options.
Interesting links to information about genetic mutation in DMD: