Staying Stronger Longer: Beyond the Headlines of the Deflazacort Story

Deflazacort made headlines in February 2017 when it was approved to treat Duchenne Muscular Dystrophy (DMD), a fatal genetic disorder that slowly robs boys and young men of their ability to move. The fact that any treatment was approved was a success in and of itself for the DMD patient community. The celebration was short-lived and the headlines quickly shifted from a new drug approval to debate over the drug’s price.

When a proposed price was announced, which was much higher than what was being paid in Europe, industry observers and media were quick to accuse Marathon Pharmaceuticals of profiteering. However, a look back at events over the past year since approval, suggests that pricing and access ended up not being a significant issue for patients and parents who needed the medicine.

Deflazacort was approved in Europe, but not in the United States. And even though Deflazacort was approved to treat more than 20 conditions that, collectively, had a patient population of more than 80 million people, never had the drug been approved to treat DMD. Not in Europe. Not anywhere.

DMD is a rare, genetic disease caused by mutations in the dystrophin gene. Without dystrophin, a structural protein, muscles are unable to operate properly and suffer progressive damage. Duchenne affects mainly boys and young men, and approximately 12,000 to 15,000 people in the United States have this disease. It typically results in the inability to walk by the teen years or earlier, and severe respiratory and cardiac complications that lead to death generally between the late teens and early twenties.

It is that dire life expectancy that led parents to go to great lengths to get the medicine from Europe, which was allowed because it was not legally available in the U.S. While the financial cost seemed minimal to some – a few thousand dollars – the cost in time and effort to procure the drug was enormous. Parents had to take their children, who in many cases were wheelchair-bound, to meet with a physician in another state, who would write a prescription for an unapproved medicine that needed to be purchased and imported from Europe.

As the company stated on many occasions, its goal was to help young men with DMD stay stronger longer and have a better life. The company completed 17 clinical and pre-clinical studies required by the Food and Drug Administration (FDA), and then ultimately brought the data before the FDA and won approval. The investment in research and development led to new understanding of the dosing, drug interaction and safe use of Deflazacort in the Duchenne patient population. The importance of the medicine was well understood, so much so that the FDA gave it a priority review, which is reserved for investigational therapies that may offer advances in treatment over existing options. Before the company’s work, Deflazacort had never before been approved for DMD anywhere in the world. In fact, the approval of Deflazacort marked the first time that an FDA-approved treatment was available for patients with all genetic forms of Duchenne.


Shortly after the approval, though, confusion arose


The approval meant that it was no longer possible for parents to import the drug from Europe. Now that it was available in the United States, it was up to insurers and government programs to cover the medication. Given the rare approvals for medications for the treatment of DMD, some in the patient community had concerns about what an approval would mean for their ability to get the medicine. Would insurers and health plans put in prior authorizations or step therapies? Would their sons need to fail another therapy first before they could get Deflazacort? What if the price was out of reach?

A flurry of headlines focused on the price of the drug, which was considerably more than what it was being sold for in Europe. Part of that is market dynamics – the pricing environment in the United States and outside the U.S. are fundamentally different, so comparisons are difficult. What’s more is that Deflazacort was being approved for DMD, a condition that afflicts roughly 12,000 boys and young men in the United States. Pricing a drug for one indication for a small patient population is also different than pricing a drug for many indications for a large patient population, which was the situation in Europe.

What happened in the following months, and over the next year, is yet another cautionary tale that any story should be judged on how it ends and less on how it begins.

Once the drug was approved, the company shortly decided to sell its medicine to another company to ensure that it would be well commercialized and available to all who needed it.

Fast forward to today. Deflazacort, now called Emflaza, is available to virtually every patient in the U.S., instead of the less than 10 percent who were importing the medicine from Europe originally. Emflaza is covered by nearly all major insurers, health plans, and government programs. For people who cannot afford Emflaza, a patient assistance program is in place that helps defray the cost of the drug. Basically, no one goes without, which is a far cry from the questions and concerns that were initially raised when the drug was approved.

In the midst of the media firestorm that accompanied the approval of Emflaza, it would have been hard to imagine an outcome that led to many more people walking longer and living better. Over the year that followed the approval, that is exactly what happened. Today, more than 2,000 boys and young men have taken Emflaza, twice the number than before the medicine was approved in the United States.

DMD now is one of the most hotly researched rare diseases, with companies investing in novel ways of addressing the disease. In the end, Marathon’s leadership and focus on getting an important medicine approved and into the hands of parents and their sons not only brought hope to those in need today but also has spurred an industry to seek more ways to address DMD in the future.