Experimental drug shows promise for local boy with muscular dystrophy

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PITTSBURGH - Billy Ellsworth was just 4 when he was diagnosed with Duchenne, the most severe form of muscular dystrophy.

 "When we got the diagnosis, it changed our world," said his mother Terri Ellsworth.

His family knows it’s a race against the clock.

Duchenne will eventually rob him of his ability to walk and use his upper body.

Most people who have it die by their 30s.

But now for the first time, there is an amazing possibility.

"Super excited, couldn't believe it. It's here," said Ellsworth.

Doctors said an experimental drug is making Billy’s muscles stronger and even letting him do things that he could not do before.

He can walk farther and jump higher.  He even opened a can of pop, something he didn’t have the strength to do prior to taking the drug.

Billy said the drug is changing his life.

“I’d be in a wheelchair maybe, but at least I am getting the medicine,” he said. “That's a good thing.”

For the past year, Billy and 11 other boys with the same gene mutation of Duchenne have received the experimental drug Eteplirsen.

Billy gets that IV infusion every Wednesday at UPMC Children’s Hospital of Pittsburgh.

"We had nothing else, so yes, it's scary but did I ever have any doubts? No," said Billy’s mother.

She said the drug has no side effects.

 “The results to this study are quite promising because this is the closest we've been in a very long time,” explained Dr. Hoda Abdel-Hamid, a pediatric neuromuscular neurologist at Children’s Hospital.

Researchers said the drug does two major things. It increases the distance boys can walk, and it also increased a key muscle-making protein, dystrophin.

“It helps to actually make the protein that's missing so it helps the muscles to recover and actually function,” said Abdel-Hamid.

It’s not a cure but Billy’s mother says it shows promise.

“It's not hopeless anymore like it was 20 or 25 years ago," she said.

The trial is small. Just 12 boys nationwide are taking part.

However, parents and researchers said the results are convincing and they hope the FDA puts the drug on the fast track to get approved.