SMA is a disease of the CNS.
SPINRAZA is delivered
directly to the CNS

EMMA:
Hi, I’m Emma, and I have spinal muscular atrophy or SMA. SPINRAZA is a treatment you may be considering. Today, I’m going to tell you how SPINRAZA gets inside of the body and what it does once it’s in there.

You may hear your doctor talk about a procedure called a lumbar puncture, or an intrathecal injection, and are wondering, what is that? Well, it’s a type of injection, and even though injections aren’t anyone’s favorite, it’s the way to get medicine like SPINRAZA into the body. SPINRAZA needs to get to the central nervous system, and it uses the fluid in your spine to get there. The spine acts like a tunnel for messages to travel between your brain and the rest of your body. For people with SMA, certain messages have trouble being delivered or understood. Under the guidance of experienced doctors, SPINRAZA gets injected into the back, goes up the spine, and directly into the CNS. Once SPINRAZA gets into the body, it works to get those messages traveling properly.

To understand how SPINRAZA does this, we need to talk about genes. Genes are inside of everyone, and they contain all the important stuff that makes you, you! You get your genes from your parents. I got my brown hair from my mom! There are a lot of different genes in our bodies. Some genes are in charge of eye color, some are in charge of how tall you are, and there’s another gene that helps your body talk to your muscles.

The name of that gene is SMN1, and it makes the protein that motor neurons need to function.

Motor neurons are these nerve cells that control how your muscles move. Say you’re trying to move your finger. You think, I want to move my finger. Your brain takes that thought and tries to make your hand move by sending the message to your finger through a motor neuron. But for people with SMA, the SMN1 gene is either missing or mutated and can’t make the protein for your motor neurons to send the messages to your muscles. If your brain can’t talk to your muscles the way it should, your muscles can get weaker until sometimes you can’t even move them anymore. But here’s the thing.

The SMN1 gene has a copy called SMN2. The SMN2 gene does the same thing as its copy, but it’s only strong enough to make a little tiny bit of the protein that motor neurons need. This is where SPINRAZA comes in.

The SMN2 gene has nine parts. These are called axons. Imagine the SMN2 gene is a recipe, but the seventh step is missing. Without it, the food doesn’t taste good. SPINRAZA works with the SMN2 gene to add the missing seventh step, which gives people with SMA more of the protein their motor neurons need to give their muscles a chance at moving.

Now that we’ve talked about how SPINRAZA works, here is some safety information you should think about if you are considering treatment. If you have any of your own questions, be sure to ask your doctor. One of the things my doctor talks to my parents and me about are my kidneys.

[ISI present in video and available below.]

EMMA: Right now, SPINRAZA is targeting my SMN2 gene to help treat my SMA.

RUBY: And mine!

EMMA AND RUBY: Bye!