NS Pharma: We Speak Duchenne

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is complicated, but understanding it doesn’t have to be.

You’ve come to the right place.
We Speak Duchenne is here to help break down information about DMD.

This is Emmett, and he is living with Duchenne.
Emmett is a paid ambassador.

Dystrophin plays an important role in muscle function

In order to function properly, our muscles need a vital protein called dystrophin.

Dystrophin is a key part of a group of proteins that all work together to strengthen and protect muscles as they contract and relax.

Duchenne is caused by a genetic mutation in the dystrophin gene

The dystrophin gene (“DMD gene”) makes our body’s dystrophin protein. This gene has 79 individual sections, called exons.

Each exon makes one piece of our body’s dystrophin protein. Due to a genetic mutation, people with Duchenne are missing one or more exons from their DMD gene. This prevents their body from making usable dystrophin.

People with Duchenne lack dystrophin, which leads to common symptoms

Without usable dystrophin, people with Duchenne gradually lose healthy muscle tissue. This leads to common DMD symptoms, such as:

Muscle weakness
Balance issues
Serious health problems over time

Increasing dystrophin may slow the progression of Duchenne

Since a person with Duchenne has low levels of dystrophin (or none at all), increasing their dystrophin may slow the progression of their DMD. This has been shown in clinical studies.

Ambassador Brantley reading a book surrounded by his siblings.

A little dystrophin goes a long way

Research suggests that having dystrophin levels of just 0.5–5% of normal may be enough to slow the progression of Duchenne in some people. Ask your child’s doctor about their specific genetic mutation to see if increasing dystrophin might be an option.

Graph displaying the benefits of Dystrophin in people with Duchenne.

When treating Duchenne, time can be critical for increasing dystrophin

Ideally, increasing dystrophin in a person with Duchenne should happen as soon as possible, since the more time passes, the more muscle is lost. Knowing the genetic mutation of a person with Duchenne is vital because it may help maximize their treatment plan by increasing their dystrophin.

See ways to increase dystrophin in people with Duchenne

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Ambassador Brantley using a tablet computer with his mother. — This is Brantley, and he is living with Duchenne. Brantley is a paid ambassador.

Common Questions and Answers

Dystrophin is an essential protein for muscle function. It’s part of a group of proteins (a “protein complex”) that all work together to strengthen and protect muscles as they contract and relax. People with Duchenne have a genetic mutation that prevents their body from making usable dystrophin; and without usable dystrophin, their muscles are more sensitive to damage and injury and thus get progressively weaker, leading to mobility issues. Since the heart is a muscle and muscles also help support the lungs, Duchenne can lead to serious health issues over time.

For a person with Duchenne, dystrophin can be increased using two different types of therapy: exon-skipping therapy and gene therapy. Each therapy allows the person’s body to create a shorter but functioning dystrophin protein. Exon-skipping therapy makes a dystrophin protein that’s 84–97% (for the most common theoretical mutations) as long as the dystrophin protein made by someone without DMD. Gene therapy makes a micro-dystrophin protein that’s 32–40% as long as the dystrophin protein made by someone without DMD.

Exon-skipping therapy is one way to increase dystrophin in a person with Duchenne. By “skipping” a section of the dystrophin gene, it helps the person make usable dystrophin within their own body. Exon-skipping therapy is given to people on a regular basis (such as every week) through intravenous (IV) infusion, which can sometimes be given in the person’s home.

The dystrophin gene has 79 individual sections, called exons. Each exon-skipping therapy works by “skipping” a specific exon, which helps the body correct for certain mutated sections of exons. These mutated sections are identified by a range of numbers (or a single number). A simple genetic test can help identify the mutated sections of exons. Speak with a doctor to learn if your child is amenable to exon-skipping therapy.

Each therapy works in a different way to help a person with Duchenne. Exon-skipping therapy helps the person’s body bypass their existing genetic mutation, while gene therapy inserts a new, engineered micro-dystrophin gene into the person. Another difference between these therapies is the actual length of the dystrophin protein that is made. With exon-skipping therapy, the dystrophin protein made is about 84–97% as long as the full-length dystrophin (for the most common mutations) protein made by someone without DMD. With gene therapy, the dystrophin protein made is about 32–40% as long as the full-length dystrophin protein made by someone without DMD.

There are many things to consider when evaluating treatment options. Some therapies can potentially work for specific mutations. Being eligible for (known as being “amenable to”) an exon-skipping therapy for Duchenne depends on which specific mutation is causing your loved one’s condition. A simple genetic test may help determine if there is an approved treatment for a person with Duchenne. The best way to find out about currently available therapies for Duchenne is to ask a doctor. You can also do an online search for exon-skipping therapies, if you know your child's specific gene mutations.

Increasing dystrophin in a person with Duchenne may slow the progression of their DMD, so it is always better to initiate treatment at an early age, as therapies that increase dystrophin in a person with Duchenne may provide the greatest effect before muscles become too weak. Research suggests that having dystrophin levels that are even 0.5 to 5% of normal (100%) may be enough to slow the progression of Duchenne in some people. And dystrophin-increasing therapy can be started at any age, in appropriate patients, even years after the initial diagnosis.

First, you can ask their doctor if your child’s specific genetic mutation(s) may make them amenable to an exon-skipping therapy that can increase their dystrophin. You can also ask if gene therapy may be an option.

Here are some helpful resources you can use to start the conversation