Mark Veilleux: FDA needs to move quickly to save young lives from Duchenne Muscular Dystrophy

Just over a year ago, 106,000 people signed a petition sent to the White House urging approval of safe and effective treatments for Duchenne muscular dystrophy. Today, a full year later, we are still fighting for the fast and efficient regulatory approach that our children deserve.

Why do children and their families affected by DMD deserve fast, and efficient treatment? Because until recently, DMD has proven to be a debilitating, incurable and untreatable disease with a 100 percent early fatality rate. It is also the No. 1 genetic killer of children. DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom-onset is in early childhood, usually occurring between ages 3 and 5. The disease primarily affects boys, but in rare cases it can also affect girls. Duchenne destroys every muscle in the body, beginning with the legs. This obviously robs the child of their ability to actively play, run or walk, typically between the ages of 9 and 12. It will progress to the arms, then the lungs, forcing its victims to endure a tracheotomy. If being on a ventilator 24/7 at such an early age isn’t heart-breaking enough, Duchenne will make sure of it literally, by attacking the muscle fibers of the heart. Shortly thereafter life is terminated.

You might ask how do I know all this? My son Mark succumbed to this cruel and hideous disease on Sept. 30, 2013. Though most days I find it difficult to set my own two feet on the floor and get moving, I made a promise to him to help those afflicted with Duchenne enjoy a better life. Through Mark’s life and strength, my family found its own. We will continue to fight this disease so that others affected will have more of an opportunity to celebrate their own sons’ and daughters’ strength — one more day, then another, and another.

The Food and Drug Administration has made it clear it does not share our urgency. The FDA should be held accountable for its lack of action taken in not approving a drug called Eteplirsen. The FDA instituted its accelerated approval program to allow for earlier approval of drugs that treat serious conditions, and that meet three main criteria. The drug must treat a serious condition, address an unmet medical need, and be reasonably likely to lead to a clinical benefit. Eteplirsen meets all three.

For more than three years, a group of 12 boys have been enrolled in a clinical trial of Eteplirsen, an experimental therapy being developed by Sarepta Therapeutics of Cambridge.

During that trial, the drug has proven to be 100 percent safe; muscle biopsies have confirmed that all of the boys are now producing dystrophin, the missing protein that leads to Duchenne; and the study has consistently demonstrated dramatic improvement in mobility for boys on Eteplirsen when compared to those who are not being treated. Dr. Jerry Mendell, a pediatric expert at Nationwide Children’s Hospital in Columbus, Ohio, who is heavily involved with the trial stated the following: “Clearly it’s a breakthrough drug. It has minimal side effects. I say minimal, we haven’t seen a single one, which is incredibly remarkable, and we unequivocally showed efficacy over a two-year period, which is unheard of in clinical trials.”

Despite these very positive results, the FDA has not yet allowed the company to file a New Drug Approval (NDA), the first formal step in the FDA approval process.

The FDA has failed to provide consistent guidance to the company.

The FDA continues to inexplicably add requirements and delay the process — while boys with Duchenne continue to suffer, getting worse every day.

The FDA must be consistent and Congress must hold them accountable.

As House and Senate committees consider new FDA reform legislation designed to promote early access to treatments, especially for rare diseases, Congress must exercise its oversight responsibilities to ensure the FDA is following congressional intent and utilizing the tools Congress provided in the FDA Safety and Innovation Act.

Sarepta is planning to file a “new drug application” in mid-2015. The FDA must commit to allowing the NDA to move forward without any further delay and no new requirements for additional data; the earliest possible consideration of the NDA; approval of eteplirsen, based on the evidence compiled during more than three years of trials.

Senators Elizabeth Warren and Ed Markey need to help put pressure on the FDA to stop the stall tactics, and the constant spin that they give to the families of these boys. For every day that drags on without a decision, that many more boys stop walking and become wheelchair bound. That many more become dependent on ventilators, and that many more pass away.

What is transpiring here is alarming … and tragically, it doesn’t have to be this way.

Margaret Hamburg, the outgoing director of the FDA, could be a hero to Duchenne families by approving Eteplirsen. Bottom line is, it is up to the agency to decide whether their sons will be just another generation of boys to die from Duchenne, or the first to survive.

Mark Veilleux is a Danvers resident and the head softball coach at Endicott.