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Hoping for a Miracle: A Kennedy family is fighting for a new drug treatment that could save their son, and thousands like him.
By Mike Stancil
   From February 23 through 25, Parent Project Muscular Dystrophy, a community that advocates for Duchenne Muscular Dystrophy research, converged on Capitol Hill. They were present both to support renewal of the MD Care Act - a bipartisan effort initiated in 2001 under President Bush to fund Muscular Dystrophy research - and to push the FDA to accelerate approval of a new medication called eteplirsen. Uniquely effective for Duchenne muscular dystrophy (DMD) - the most common and severe form of the disease - eteplirsen is being developed by Cambridge, Massachusetts-based Sarepta Therapeutics. It is at the forefront of DMD gene therapy research.

   Among those advocates was Terri Ellsworth, a Kennedy Township mother whose son, Billy, is one of only 12 boys currently being treated with the drug. She was there because she believes, and the evidence is compelling, that eteplirsen is helping her 13-year-old son. She wants it to be available for all applicable Duchenne patients, of which thousands or more could benefit worldwide.
   “It’s my calling,” she says, with conviction, “[getting accelerated approval] has become my passion.”

Hoping for a Miracle: A Kennedy family is fighting for a new drug treatment that could save their son, and thousands like him.

  Terri Ellsworth looks on as a Pittsburgh Children’s Hospital nurse checks her son, Billy, prior to administering a treatment for Duchenne muscular dystrophy. Billy is one of just12 boys in the world receiving the treatment.
Even before Billy was diagnosed, Terri and her husband, Bill, were proactive about learning about his condition.

   “We had a leg up going to see the doctor,” Terri remembers about when they got Billy’s diagnosis nearly nine years ago. “We had already known it was Duchenne.”

   The Ellsworths spent the weeks prior to that visit pouring over symptoms, and had already come to the conclusion that their son matched all of them. So when it was confirmed that their four-year-old son had Muscular Dystrophy, Terri says, “I just hung my head. I didn’t break down and cry.” The tears had come in weeks prior.

   What they were not prepared for was leaving the hospital with a feeling of hope. The doctor at Pittsburgh Children’s Hospital informed the Ellsworths that, in fact, research was finally yielding results in the study of MD, and that Duchenne treatments were on the horizon.

   Six years later, in March of 2011, Terri received a cell phone call from Dr. Jerry Mendell, a neurologist at Nationwide Children’s Hospital in Columbus, Ohio, and a lead researcher at the Center for Gene Therapy. Dr. Mendell asked if she would like to have Billy screened for inclusion in testing a new medication called eteplirsen. After speaking with Dr. Mendell and finding herself convinced that if her son passed the prescreening he would be included in the study, Mrs. Ellsworth allowed herself the luxury of a little hope. Billy began treatment as part of a six-month, double-blind trial in August of that same year.

   Terry says she understood the necessity of a placebo-controlled trial, and came to terms with the idea that Billy could just be receiving a placebo ahead of time. Billy, though, along with 11 other boys, still had some ambulatory ability and was expected to experience a much more rapid decline. That made them good candidates to measure the drug’s effectiveness.

   After the initial six months, Terri found out that Billy had been receiving a low dose of 30mg/kg for the entire trial. The news got better. The muscle biopsies showed impressive positive results. At 24 weeks, the study concluded that the 30mg/kg eteplirsen dose showed an increase in dystrophin-positive fibers, with no increase in placebo participants.

   The Duchenne form of muscular dystrophy is caused by a mutant dystrophin gene, which produces a malfunctioning dystrophin protein, an important component in the stability of muscle tissue. The result is a replacement of muscle tissue with fat and fibrosis, which, over time, inhibits mobility and eventually causes complications that result in death. The median age for those with DMD to lose their ability to walk is nine-and-a-half, with nearly all patients wheelchair-bound by age 12. Eteplirsen works by targeting the transition of the dystrophin gene, causing it to skip the defective exon 51, specifically, thereby making a smaller, functional protein. This truncated protein transforms the disease from a form lacking a functional dystrophin protein to a less severe form with a truncated protein known as Beckers MD. The anticipated result is better muscle retention, and a dramatic increase in survivability.

   After the initial trial, the 12 boys who had received eteplirsen returned home and continued intravenous infusion treatment at nearby hospitals. Billy returned with his mother to Pittsburgh’s Children’s Hospital, where they had been receiving care since his diagnosis in 2005.

   For over two years, every Wednesday, the Ellsworths have had a standing appointment there for the eteplirsen treatment. The hospital nurses and doctors act and interact more like family than staff, and most of the procedure is now routine. While waiting for the medicine to be transported from the pharmacy, Billy often takes the opportunity to visit a friend down the hall. Terri points out that recently, his heels have started touching the floor when he walks. It’s an improvement of his progression towards more extreme toe walking, a standard symptom with Duchenne patients that inevitably leads to immobility. Though visibly proud, Terri also quickly explains that this is why it is so important for the FDA to accelerate approval of eteplirsen. While it’s believed that the drug allows for new healthy muscle to develop, it does not restore muscle that has already declined as a result of a lack of dystrophin. Thus, the longer the drug is kept out of patients’ hands, the less chance there is of it being effective.

   The focus for the Ellsworths and advocates of the drug now is on a new guidance draft under the FDA’s Safety and Innovation Act (FDASIA) called Expedited Programs for Serious Conditions -Drugs and Biologics. The proposed programs, under which the PPMD advocates believe DMD is included, “are intended to facilitate and expedite development and review of new drugs to address unmet medical need in the treatment of a serious or life-threatening condition: fast track designation, breakthrough therapy designation, accelerated approval, and priority review designation.”

   If the FDA recommends a full phase three trial, the drug would not reach market until 2018. With no recorded side effects, and exciting results for the 12 boys in treatment, researchers are insisting that the medication be approved. Research can then continue, and the quality of life for a larger portion of Duchenne patients could be improved or sustained.

   A few months ago, Billy successfully jumped off the bottom stair in his home, sticking the landing without considerable effort or losing his balance. Terri was so overwhelmed with excitement that she wanted to immediately log on to DMD social media and support groups to post about the exciting development. She hesitated, though. How could she post that, she explains, when every day she reads about the deterioration of other boys around the world, a group she considers a vast and extended family? Billy had the medication, and they couldn’t get it.

   After wrestling with the decision, she chose to post about his triumph. To Terri’s surprise, her post gathered excitement and support from parents around the country, thanking her for giving them hope.

   “I knew then,” she says, “that this was my calling.”

   After a Duchenne Policy Forum in December, some parents reported that FDA representatives insisted DMD is at the top of their priorities. Researchers and parents of patients in the eteplirsen trial will not rest until they have confirmation of the accelerated approval of the drug, which could allow it to reach market as early as late this year.

   “Birthdays are bittersweet,” Terri says, referring to the fact that most Duchenne patients only live into their twenties, but many more only reach their teens, if that.

   That means, at best, Billy could already be halfway through his life expectancy. With the medication providing hope of increased longevity, the battle for the Ellsworth family has since shifted.

   “[Duchenne] is no longer our biggest enemy,” Terri says. “Now the biggest thing in our way is bureaucracy.”

• If you wish to recommend eteplirsen for accelerated approval, contact your State Representatives

• To help the Ellsworth family, visit

• To learn more about Duchenne Advocacy,



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