Teen with severe muscular dystrophy fears medication will not be available

MARSHFIELD, Mass. — A Marshfield teen who has a severe form of muscular dystrophy fears the medication he has been on for nearly a decade will no longer be available following an upcoming decision from the Federal Drug Administration.

Joey Chorzewski, 16, was diagnosed with Duchenne muscular dystrophy at three years old. The genetic disease, which has no known cure, affects mostly boys and causes rapid muscle loss, first in the upper legs and later in the arms.

Although Joey, who now uses an electric wheelchair, lost his ability to walk around the age of 14, his family has he still has more strength than most kids with the disorder.

“Being able to stand and pivot at 16, I don't know too many kids with Duchenne that can do that,” Joey’s father, Michael Chorzewski, said. “So something's helping him. And I think it's the ataluren.”

Approved only in Europe, ataluren, developed by PTC Therapeutics, is an investigational drug in the United States. Joey, who is part of a clinical trial, has been taking the medication for nearly a decade.

He recently testified before the FDA in Washington, D.C., explaining the impact the drug has had on his life.

“If I didn't have it, then I wouldn't be able to do things that I do today, like a normal teenager,” Joey told Boston 25 News Thursday. “It won’t only help me, but everyone suffering from the disease.”

An FDA advisory committee voted 10-1 last month, with 10 members deciding the data were inconclusive and more work was needed before approving the drug. One member voted the data are in fact sufficient to conclude the drug is effective.

The FDA will decide whether or not to approve the drug by Oct. 24. Because the FDA often follows the committee’s vote, the Chorzewskis fear they will lose access to the medication.

“The FDA recognizes the unmet medical need in Duchenne muscular dystrophy, the devastating nature of the disease for patients and their families, and the urgency to make new treatments available,” the FDA said in the statement explaining the vote.

The maker of the drug told Boston 25 News in a statement, “PTC Therapeutics has conducted clinical trials in Duchenne for over ten years in over 400 patients and we believe the results show that ataluren provided benefits that was meaningful to patients.”

Before ataluren, Joey used to fall and drop items and he had little energy, his mother said, but soon after starting the therapy, he regained strength.

“We need this now. If we stop it, I don’t want to see things disappear that Joey has for strength,” Denise Chorzewski said. “He has a lot of big dreams, and we think that he’s going to achieve it with this.”

The Chorzewskis know ataluren is not a cure, but they believe it will allow Joey to preserve the mobility he still has and keep his heart and lungs strong. They also believe it will buy precious time until a life-saving cure is developed.

“The FDA, I think, is looking for a home run,” Joey’s father, Michael said. “What we are looking for is base hits. Base hits. All we need to do is stay in the game.”

Cox Media Group