Identifying your child’s mutation.
EXONDYS 51 is used to treat Duchenne muscular dystrophy in patients who have a confirmed mutation in the dystrophin gene that can be treated by skipping exon 51.
EXONDYS 51 was approved under accelerated approval. Accelerated approval allows for drugs to be approved based on a marker that is considered reasonably likely to predict a clinical benefit that has not been proven. EXONDYS 51 treatment increased the marker, dystrophin, in skeletal muscle in some patients. Verification of a clinical benefit may be needed for EXONDYS 51 to continue to be approved.
If your child has been diagnosed with Duchenne, ask your doctor about genetic testing.
The goal of a genetic test is to identify the genetic mutation so treatment options can be considered. To learn if your child’s mutation is amenable to treatment with EXONDYS 51, take the immediate step of asking your doctor to order a genetic test.
What can I learn from a genetic test?
A genetic test will:
- Confirm a diagnosis of Duchenne so you can take action on your child’s behalf
- Identify the genetic mutation so treatment options can be considered
- Assist with family planning
We know the mutation. Is my child amenable?
EXONDYS 51 is intended for patients with Duchenne who have genetic mutations that are large deletions—where one or more specific exons, listed below, are missing. A doctor or genetic counselor will need to interpret your child's genetic test results to determine if your child can take EXONDYS 51. If the genetic mutation is not amenable to treatment with EXONDYS 51, talk to your doctor about other potential treatments.
The deletions, or ranges of deletions, that are theoretically amenable to exon 51 skipping are shown here.
Choose an exon range.
Find out how EXONDYS 51 may help the body make a shorter form of the dystrophin protein.
This educational table is not intended to make a diagnosis or replace discussion with your doctor or genetic counselor.
“Families receive this diagnosis and sometimes they don’t know what’s next. SareptAssist Case Managers are here to help families navigate the process of starting treatment with EXONDYS 51.”
–Ashley, SareptAssist Case Manager
A mutation is a change in a person's DNA. Mutations range in size from a small (a single rung on a ladder) to a large segment of DNA. Every mutation causes a different effect on our bodies. Learn more about the role of genetics in Duchenne.
A deletion is a type of mutation where genetic material is missing. Duchenne is caused by a mutation on the dystrophin gene; the mutation may be a deletion, duplication, or other change in the gene. Learn about genetic testing for Duchenne.
Please discuss your child's genetic test results and treatment options with your child's doctor. For EXONDYS 51 to work, exon 51 must be present in the dystrophin gene. Your child's doctor or a genetic counselor is the best person to help you understand genetic testing. Explore what genetic test results can tell you.