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About Duchenne

Duchenne muscular dystrophy: the most common muscular dystrophy in children.

What does it mean when a child is diagnosed with Duchenne muscular dystrophy (DMD)? Arming yourself with information about the cause and progression of this rare disease may help you make important decisions moving forward.

Understanding the cause and symptoms of Duchenne.

Duchenne muscular dystrophy is often referred to as DMD or just Duchenne and affects mostly boys. It is a progressive disease that causes muscle weakness that affects many parts of the body. Learn the common symptoms and the underlying cause behind this rare condition and why informed decision-making at the earliest stages is so critical.

Handdrawn illustration of DNA strand
Learn More About Duchenne

Handdrawn illustration of DNA strand

EXONDYS 51 patient Liam, age 19, sitting on a stool looking at the camera with a white background

Genes, dystrophin, and Duchenne.

Why are some children born with Duchenne? Putting it simply, Duchenne is caused by a genetic mutation that limits their body’s production of a protein called dystrophin. There is much more to learn about genetic mutations, including which specific mutations cause Duchenne, the role of dystrophin in muscle function, and why it’s so important to know your child’s specific mutation.

See How Genes Play a Role
EXONDYS 51 patient Liam, age 19, sitting on a stool looking at the camera with a white background

The path to a Duchenne diagnosis.

Duchenne is initially diagnosed through a creatine kinase (CK) blood test. But too often, children who display symptoms of Duchenne are not given this simple test, delaying their diagnosis for years. While the CK test is a highly accurate indicator of Duchenne, genetic testing is required to confirm a diagnosis. The good news is that today’s genetic tests reveal far more information—including the exact mutation in the dystrophin gene—than those performed just a few years ago.

Get Details on Diagnosis
Getting Diagnosed

 

WHAT IS EXONDYS 51® (eteplirsen)?

EXONDYS 51 is used to treat Duchenne muscular dystrophy (DMD) 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.

IMPORTANT RISK INFORMATION

Allergic reactions, including rash, hives, fever, flushing, cough, difficulty breathing, wheezing, and low blood pressure have occurred in patients who were treated with EXONDYS 51. Seek immediate medical care if signs and symptoms of allergic reactions occur.

Side effects that happened at least 25% more often in 8 patients treated with EXONDYS 51 by intravenous infusion than in 4 patients treated with an inactive intravenous infusion were problems with balance (38%, 0%), vomiting (38%, 0%), and skin irritation (25%, 0%). The most common side effects were problems with balance and vomiting.

In patients who received EXONDYS 51 for up to 4 years in clinical studies, the following side effects were reported in at least 10% of patients and occurred more often than at the same dose of EXONDYS 51: vomiting, bruising, scratches, joint pain, rash, IV site pain, and infections of the upper airways.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch or call 1-800-FDA-1088. You may also report side effects to Sarepta Therapeutics at 1-888-SAREPTA (1-888-727-3782).

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WHAT IS EXONDYS 51® (eteplirsen)?

EXONDYS 51 is used to treat Duchenne muscular dystrophy (DMD) 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.

IMPORTANT RISK INFORMATION

Allergic reactions, including rash, hives, fever, flushing, cough, difficulty breathing, wheezing, and low blood pressure have occurred in patients who were treated with EXONDYS 51. Seek immediate medical care if signs and symptoms of allergic reactions occur.

Side effects that happened at least 25% more often in 8 patients treated with EXONDYS 51 by intravenous infusion than in 4 patients treated with an inactive intravenous infusion were problems with balance (38%, 0%), vomiting (38%, 0%), and skin irritation (25%, 0%). The most common side effects were problems with balance and vomiting.

In patients who received EXONDYS 51 for up to 4 years in clinical studies, the following side effects were reported in at least 10% of patients and occurred more often than at the same dose of EXONDYS 51: vomiting, bruising, scratches, joint pain, rash, IV site pain, and infections of the upper airways.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch or call 1-800-FDA-1088. You may also report side effects to Sarepta Therapeutics at 1-888-SAREPTA (1-888-727-3782).

Please see the full Prescribing Information for EXONDYS 51 (eteplirsen).