The FDA’s approval of a new gene therapy for Duchenne muscular dystrophy won’t help me — but it gives me hope

When I was diagnosed with Duchenne muscular dystrophy 20 years ago, there was no hope. The guidance the diagnosing doctor gave my parents was simple: Love your child as much as you can now because he won’t be here very long.

That was the inspiration that my mom needed to start CureDuchenne. Her intention — our whole family’s intention — was to cure this disease so no other parents would have to go through the same traumatic prognosis.

On Thursday, we took an important step on that path to a cure when the Food and Drug Administration approved Sarepta Therapeutics’ gene therapy, SRP-9001, under the accelerated approval pathway. (Disclosure: CureDuchenne provided early funding to Sarepta but holds no Sarepta stock and otherwise has no financial interest in the company.)

As a community, we celebrate the first approval of a gene therapy that has shown meaningful improvement for some boys. But this is not the final victory. It’s only the beginning.

Sarepta’s gene therapy works by inserting a truncated version of the dystrophin protein gene through a harmless virus. The dystrophin protein is lacking in people with Duchenne and causes muscle degeneration. Clinical trials have shown an increase in the expression of that micro dystrophin, and some families whose children were not on placebo felt that there was marked improvement.

The gene therapy was tested on younger children who can still walk, mostly between the ages of 4 and 8, though the FDA has approved the treatment only for 4- and 5-year-olds.

My family and I have always known beyond a doubt that this day would come. We had faith — in God, science, and the people in this community — we would get here. We didn’t know when or how, but we knew. It was a mustard seed of hope, but it has grown, thanks to the many people involved with watering and nurturing it: the community, the generous donors, the biotech companies like Sarepta. With this approval, our hope has gone above ground. Now everyone in the world can see it.

For the majority of people affected by Duchenne, this is the first time they’ll have a treatment that isn’t steroids. While we don’t yet know how insurance will cover the gene therapy or how it will be distributed, it will be available to many more people than it ever has before.

That makes me excited. When I was growing up, something like SRP-9001 was for the future. For many boys, it is now the present.

This approval opens up the floodgates for continued research into Duchenne. If one company succeeded through this accelerated approval pathway, then many more can as well. And those include more established names in the industry like Pfizer, which is in its Phase 3 trial for its gene therapy. Following on are companies such as Solid Biosciences and Regenx with their own gene therapies.

But there are real limitations with gene therapy that we can’t ignore. Once treated with SRP-9001, a patient can’t receive another gene therapy and will likely be unable participate in clinical trials for other kinds of treatment, such as exon skipping. For some, SRP-9001 is the only option, and the clock is ticking as muscle cells continue to die. But for some people, it might be worth waiting for technology that overcomes those gene therapy hurdles. However, each person decides what is the right thing, and no one in the community should make it out as anything else.

Many men with Duchenne like me are frustrated, and I understand why. Again, SRP-9001 has only been approved for ages 4 to 5. When are those of us who are older going to have the right to try gene therapy? We are working against the clock. At 26 years old, I have limited abilities, but I can still type, reach my arms out to hug someone, and hold my head up on my own. No one can predict when I will lose those abilities. But I will lose them. I can only save my muscles for so long. I try not to imagine it, but I’ll eventually be so weak I’ll be paralyzed.

With that said, the promising bit of news to note is that the FDA will “entertain” a non-age restriction expanded label of SRP-9001 depending on the results of the ongoing EMBARK trial.

I know the FDA feels more comfortable approving SRP-9001 for that small segment of boys. That’s where the most solid evidence is.

But as the FDA considers opening up the label for all ages, I hope it will realize that there are some things you can’t measure. Many boys on SRP-9001 are still walking into their teens. Many boys not on SRP-9001 are still walking into their teens. It may be hard to know what impact it had, but if it even added one more day to someone’s ability to walk, it would have been worth it. Or maybe it kept them strong enough so they didn’t fall and break a bone. Or maybe they could play soccer with their friends for longer than five minutes. Maybe an older boy can lift a metal utensil to his mouth rather than a plastic one.

These are all marginal improvements that might not come across in the data, yet exist nonetheless. Yes, it’s important to approach this from a scientific lens, but at the end of the day, time is limited, and boys will die from this disease. Why not give them the information they need to make a decision? Maybe they still die, but at least something was done to try to give them a fighting chance, and they’ll die knowing that.

My friend Suhail didn’t make it. His heart had been failing because of Duchenne. It also meant he didn’t qualify for many clinical trials, including for gene therapy. His real heart will never slip away as long as I live. But I’ll never see his smile again or discuss the latest Marvel movie or even tell him about the girl that I like or the challenges that we both shared. There are thousands more stories of those who might have become great men. I wish I could have shared this moment with them. We haven’t yet cured Duchenne, but we’re well on our way.

Hawken Miller is a content strategist for CureDuchenne, a patient advocacy organization focused on research, and a journalist with bylines in The Washington Post and BioNews.