Exon-skipping is a therapeutic approach to helping people with genetic disorders produce shorter, but still usable, proteins by “skipping over” the defective parts of genes. While this type of science has been investigated since the late 1970s, much is still unknown about its potential efficacy.*
NS Pharma is investigating how far we can take this innovative therapy when it comes to helping people with Duchenne muscular dystrophy (Duchenne), a genetic muscle wasting disease. Specifically, we are investigating exon-skipping in patients with mutations amenable to skipping of exons 44, 45, 50, 51, 53 and 55.
Here are some commonly asked questions about exon-skipping for the treatment of Duchenne:
Genetic testing can help you find out if you have Duchenne and, if so, which genetic mutation is the cause. Performed by a healthcare provider, this simple test can identify the specific mutation that is inhibiting dystrophin production in the body. Here’s a discussion guide you can use to help you through these important conversations with your doctor.
Not all genetic mutations causing Duchenne can be treated with exon-skipping therapy at this time. This exon-finder tool can tell you if exon-skipping therapy is an option for your specific mutation. This tool is not intended to replace discussions with your doctor or genetic counselor.
Various treatments are used to manage Duchenne symptoms, including steroids and physical therapy. However, these treatments do not increase dystrophin. Exon-skipping is the only option that can increase dystrophin in eligible people with Duchenne. Gene therapy is another option to increase micro-dystrophin in people with Duchenne.
No, exon-skipping is not a cure for Duchenne, but it may halt or delay symptom progression for many people with Duchenne.
*https://pubmed.ncbi.nlm.nih.gov/30171532/
US-NSPCO-0069