An Optimistic Approach

Laura Hagerty, Ph.D.

Laura Hagerty, Ph.D.

As we settle into 2016 and face a fresh new year full of hope and optimism, much of the focus of our DMD community remains on the exon skipping therapy at the regulatory review end of the development pipeline: Sarepta Therapeutics’ eteplirsen.

In November we saw our first advisory committee review for a drug designed to treat DMD as the U.S. Food and Drug Administration (FDA) convened a panel of experts to discuss the evidence provided by BioMarin in support of its New Drug Application for drisapersen. Now, following the FDA’s decision earlier this month that drisapersen can’t be approved at this time due to insufficient evidence to support efficacy, we continue moving ever forward and look ahead to the Jan. 22 advisory committee meeting for FDA review of eteplirsen.

At MDA we know it is imperative that those living with DMD have as many safe and effective treatment options as possible — as quickly as possible. And as we move through these historic milestones in the DMD landscape on our way to treatments and cures, I want to take a moment to reflect on what it’s taken to reach this point. It’s a story 65 years in the making, holding incredible promise and hope that has no bounds.

Committed to finding treatments and cures

MDA is committed to helping bring safe and effective treatments and cures to those we serve as quickly as possible. To that end, we have funded over $1 billion in neuromuscular disease research grants since 1950, with more than $200 million dedicated to research for DMD.

In 1985, MDA-supported researchers identified the gene that, when flawed, leads to DMD. Not long after, in the early 1990s, we began supporting research into a promising treatment strategy called exon skipping. The strategy causes cells to “skip” (splice out, or leave out) certain sections of genetic code called exons during the protein production process. Leaving out these sections allows for the creation of shorter-than-normal, but partially functional, dystrophin — the muscle protein missing in DMD.

history of exon skipping

Furthest along of the exon skipping drugs in development at this time is eteplirsen, which targets exon 51 and may be effective in a significant number (13 percent) of boys currently living with DMD. A number of other exon skipping compounds designed to target different sections of the dystrophin gene currently are in development as well, with some having advanced to testing in human clinical trials.

Turning hope into treatments

All of us at MDA are hopeful that the FDA and the advisory committee’s review of the complete data set on eteplirsen will demonstrate that the drug could become a viable therapy option for DMD.

We strongly encourage the most expeditious review possible given the promising reports, the urgent need that exists for the families we represent, and the overwhelmingly enthusiastic response we’ve seen from the Duchenne community.

Everything we do at MDA is for the families we serve, and we won’t stop until we’ve succeeded in freeing those individuals — and the families who love them — from DMD and other muscle-debilitating diseases that limit strength and life. We are optimistic that we are closer than ever before to viable treatment options for Duchenne, and we’re working harder than ever to make that day a reality.