Alliance pushing to make drug more readily available

SOUTH BEND, Ind.--- It was a sight one mother never thought she'd see again. Her son walking better than ever before, and it's all thanks to a trial drug.

But her joy can only go so far.

As she watches her one son succeed, she sees her other son, who was denied the drug, becoming weaker in his wheelchair.

Now, she's on a mission to get both boys on this life changing medicine.

One uses the stairs, the other a ramp and both have the same disease, Duchenne Muscular Dystrophy, which effects mostly boys and usually kills them before their 21st birthday.

But while 12-year-old Max is getting what some are calling a miracle drug, his 15-year-old brother Austin is not allowed to take the drug.

"I know that my son will die if he doesn't get it," said Jenn McNary, Austin and Max’s mother.

What Austin can't get is a drug called Eteplirsen. He wasn't eligible for the drug trial because he was already in a wheel chair, which is where all Duchenne Muscular Dystrophy patients end up.

His brother was on his way to needing a wheel chair too, but Max could walk six minutes on his own; that was the test.

So he got into the drug trial three years ago, and now with weekly infusions of the drug he is doing much better today.

"We saw his disease progression halted," said McNary.

Halted, even reversed. Max was walking better, running faster and getting stronger. His brother meanwhile is getting weaker and can only watch from his wheelchair.

"It is hard because it is there and I can use it but I'm not able to and Max is on it and he's getting better," said Austin.

"Some boys are running, and some boys are now playing sports,” said Christine McSherry, CEO of the Jett Foundation and Co-founder of the International Duchenne Alliance.

McSherry says never before in the history of this devastating disease has a drug performed so well.

But the FDA wants more study data, more information and more proof.

Austin, at 15, says he is not afraid to die, which could happen while waiting on the FDA to make a move.

A concerned Max wants the FDA to give his brother the drug he desperately needs.

“Give my brother the drug now,” said Max.

The members of the Duchenne Alliance have been pushing the FDA hard for immediate approval of the drug.

Recently the Alliance got more than 100,000 signatures to get the White House to look into the issue now before another boy dies.


REPORT: MB # 3771b.
BACKGROUND: Duchenne muscular dystrophy (DMD) is a vicious form of muscular dystrophy that occurs mostly in boys. It is caused by an alteration in a gene, called the DMD gene that can be inherited, but it also can occur in people who do not have a known family history of the condition. The condition causes progressive loss of muscles function and weakness that begins in the lower limbs. Boys with DMD do not make the dystrophin protein in their muscles. It affects approximately one in 3500 boys worldwide. (Source:
SYMPTOMS: When a child has DMD, symptoms normally appear before six years old and may appear as early as infancy. The first noticeable symptom is in motor milestones. For example, sitting and standing independently will be more of a challenge. The average age of walking in boys with DMD is 18 months. DMD attacks the leg and pelvic muscles, resulting in a waddle and difficulty climbing stairs. Calf muscles usually enlarge and the muscle tissue eventually is replaced with connective tissue and fat. When the leg muscles contract, the muscles become unusable because the muscle fibers are shortened and fibrosis occurs in connective tissue. Symptoms are usually prevalent in boys ages one to six. There is a steady decline in muscle strength from age's six to eleven. By age ten, patients may need braces to walk and in a wheelchair by 12. Few individuals with DMD live beyond 30. Cardiomyopathy and breathing complications are common causes of death for DMD patients. (Source:
CHRISTINE MCSHERRY: "About two years ago it became very apparent that a drug that was in trial, a trial of twelve boys who had Duchenne muscular dystrophy, those boys all seemed to stabilize or get better. At their 48 week mark during the trial the muscle biopsy that was taken from them was revealed and actually showing the protein that the boys were lacking. So, the reason for Duchenne muscular dystrophy or the underlying causes of Duchenne muscular dystrophy is a lack of dystrophin in the body. They have none. And the whole idea of exon skipping this technology goes in and it takes out a certain exon and allows a read through of the chromosome and then allows the body to make a truncated dystrophin, that's what the aim is for the drug, the mechanism of action is for that drug of this technology. Theoretically you would hope that it would turn the child who is taking the drug into a milder form of muscular dystrophy called Becker. Becker patients have a small amount of dystrophin, or a large amount of dystrophin, they just have some dystrophin in their muscles versus none like a child with Duchenne."
The mothers along with other parents were responsible for bringing 7 world renowned Duchenne experts to the FDA, where the experts discussed the life-changing results and the lack of side effects with the agency, because the experts agree that this drug and technology could hold the first treatment ever in Duchene.


Christine McSherry
CEO of Jett Foundation
Co-Founder of International Duchenne Alliance
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at
MB #3771b.
MAY '14

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