Eteplirsen Granted Approval for DMD: Turning Promise into Progress

Capitol Building

Today we couldn’t be happier as, together with the Duchenne community, we celebrate FDA accelerated approval of eteplirsen to treat kids and adults with some forms of Duchenne muscular dystrophy (DMD).

“This is something that we’ve watched, and hoped and prayed for, and seen it develop over the last seven years or so,” said Josh Argall, whose son Devin has DMD. “To have it all come to where it has been and see approval — it just means so much, and I would just say for other people that are in similar situations where they’re waiting on a drug for their disease, or for a loved one, don’t give up hope.”

This is a really exciting time for MDA and the families that MDA serves. This is the first treatment that’s being approved by FDA for therapy for Duchenne Dystrophy. That’s a great thing, and it’s great for the families — they’re going to be able to have a drug that’s going to change the course of this disease.

~Lou Kunkel, professor of pediatrics and genetics, Harvard Medical School

Although confirmatory studies will be required to evaluate its effectiveness, eteplirsen will now become an available treatment option for some children and adults with DMD.

“Today has been a long time in the making,” said MDA President and CEO Steven M. Derks. “This is the outcome MDA dreamed of 25 years ago when it was the first to invest in the breakthrough research that led to development of eteplirsen. Throughout this process we have seen the undeniable strength of our community to rally behind MDA’s commitment to find treatments for our families. This is an important victory, and we are honored to stand shoulder-to-shoulder with everyone who has fought to make this day a reality.”

Today’s news represents a watershed moment for families and reflects a legacy of MDA support more than six decades in the making. More importantly, it marks a proof point — the turning of promise into progress — and the hope that this momentous step forward will accelerate the development of more treatments for DMD and related diseases.

Pushing back against DMD

MDA has been there since day one. Twenty years ago, we began funding work by Steve Wilton, foundation chair in molecular therapy at Murdoch University in Australia. Wilton’s work in exon skipping, which MDA continues to fund to this day, led to the development of eteplirsen.

“I’m extremely excited that the FDA has chosen to approve eteplirsen for use in boys with Duchenne muscular dystrophy,” said Katherine Mathews, professor of pediatrics-neurology at the University of Iowa Carver College of Medicine, and an MDA Care Center director. “I’ve been taking care of boys with Duchenne for a long time and this is the first time I have a specific therapy to offer some of them.”

Although the drug won’t cure DMD, it could slow progression, lessening the severe muscle weakness that is associated with the disease in those who have specific forms of Duchenne — and while a cure for DMD is the goal we’re all working tirelessly to achieve, extending the ability to walk, to eat independently, and to breathe is of immeasurable value.

“Approval of this drug is incredibly important to the MDA family, to MDA and to the investigators who have been trying to solve the problem of Duchenne muscular dystrophy for years,” said John Day, professor of neurology at Stanford University Medical Center and an MDA Care Center director.

Day noted that being able to treat even a subset of boys with DMD really gives us a “foothold” with which we can begin to push back against this disease. “It shows that we are learning how to study these drugs and prove they work in boys with muscular dystrophy,” he explained, adding that it also gives us an approach to treatment that may be able to be modified to treat other forms of Duchenne.

Pursuing treatments for ‘untreatable diseases’

Although exon skipping currently is in development for DMD, the strategy potentially could unlock life-changing treatments across related neuromuscular diseases.

“This is a watershed moment,” Wilton said, noting that work already is ongoing in a number of different diseases — including spinal muscular atrophy (SMA), late onset Pompe disease (AMD), facioscapulohumeral dystrophy (FSHD) and others — in which exon skipping may be effective.

Wilton noted he and other investigators are actively working to identify as many of these diseases as possible – “to come up with new treatments for untreatable diseases.”

Charting a bold course

Importantly, we know that seeing eteplirsen become available to our families is a first step — one that will spark more innovation, more venture capital activity and more drug development across the board.

“Approval of eteplirsen is not only a big win for the Duchenne community, but also the other rare diseases in MDA’s program,” said Grace Pavlath, MDA senior vice president & scientific program director. “Seeing this success will entice other companies to work on these diseases, which is going to lead to an expansion in the number of therapeutic options in the pipeline.”

MDA has charted a bold course to double our spending on research toward drug development and clinical trials, and even as we recognize this moment, our expansive research program is in motion, leveraging learnings across one disease to inform and advance science and uncover breakthroughs in other disease spaces.

Redoubling our research efforts

MDA’s fingerprints are not only on eteplirsen, but on nearly every treatment strategy in the DMD drug development pipeline today. And we’re not slowing down for a second — in fact, we’re redoubling our research efforts. In the last five years, MDA has supported 169 DMD grants with a total funding commitment of $54 million. We continue to fund the best and brightest scientists and the most promising research projects to accelerate treatments and cures.

This year, MDA plans to invest $16 million in research as we take a unique, big-picture perspective across the spectrum of muscle-debilitating diseases that take away everyday abilities such as walking, talking and hugging. Nearly 200 clinical trials are under way for diseases in our program right now, testing dozens of promising therapies as they make their way through the pipeline. We will continue to help pave the way and move these potential treatments toward the finish line by funding critical scientific research, facilitating clinical trial participation, and advocating for policies that help ensure that the drug development and regulatory review processes move as quickly and effectively as possible.

Our sense of urgency has never been greater as we continue, with deepest thanks to all of those who have supported us along the way, to fight for strength, independence and life.

“Keep on believing,” Josh Argall said. “It’s going to happen!”

Read the full press release: MDA Celebrates FDA Accelerated Approval of Eteplirsen for Treatment of Duchenne Muscular Dystrophy


This is just the beginning. There are many other promising therapies moving closer to the finish line, but we can’t keep this momentum going without you.