Entries in Duchenne Muscular Dystrophy (3)


Vermont Mom Begs FDA to Get Healing Drug for Son

Courtesy of the Mcnary family(NEW YORK) -- Jenn McNary, a mother of six from Saxtons River, Vt., is desperate.  Both her boys have Duchenne muscular dystrophy, but only her 10-year-old Max has access to a wonder drug that appears to be reversing the symptoms of this deadly disease.

His 13-year-old brother Austin is languishing in a wheelchair while Max has been able to take the drug eteplirsen through a highly successful clinical trial.

After 60 weeks on an IV infusion, Max was able to participate in a three-mile Halloween walk.

"It's the first time ever -- he's never been able to walk that far.  He's always gone with a wheelchair, even as a toddler," said McNary, 32.  "He actually doesn't look like a Duchenne kid at all.  And his balance is great."

"People all over the world are calling it a miracle," she said of the drug.

Now, McNary has written petitioned the Food and Drug Administration to give accelerated approval of the medication -- the fastest way to help Austin and other boys with the disease.

Both boys have the same gene mutation that the drug targets and it will eventually kill them.  Austin was diagnosed at 3 and Max at 3 months.

There is no cure for Duchenne muscular dystrophy.  Until now, doctors have only been able to use steroids, which just temporarily delay the inevitable loss of muscle strength.

Austin was not allowed to participate in the clinical trial because one of the inclusion criteria was that he be able to complete a six-minute walk.

"This has been a bitter-sweet journey for us," McNary wrote in a letter to the FDA this week.  "As we watch Max get better, we also watch his older brother, Austin, 13, get worse.  He suffers, silently, as his disease progresses."

Duchenne muscular dystrophy affects one in 3,500 male births, about 20,000 children in the United States and 300,000 worldwide, according to Cure Duchenne, one of three organizations that have funded the clinical trial.

The muscular disease strikes between the ages of 3 and 5 as boys progressively lose their ability to walk.  Eventually, they are wheelchair bound, their upper body strength fails, and, like Austin, they eventually cannot raise their arms to feed themselves.

Later, their breathing is affected and they require tracheotomies and breathing assistance.  Eventually, the heart and lungs fail.

Parents of children who were in the clinical trial of eteplirsen at Nationwide Children's Hospital in Columbus are calling it a "wonder drug."

According to McNary, all 12 children in the double-blind study received "some benefit" from the drug.  It has no known side effects.

"Even two boys who stopped walking before taking it have stronger upper bodies and their hearts are strong," she said.  "They have progressed to stable."

If this exon-skipping drug is approved, she estimates 15 percent of boys with Duchenne could be helped, those with the type that skips exon 51.  As a class of drugs, they could help up to 85 percent of boys with the disease.

Copyright 2012 ABC News Radio


Surgery Offers New Hope for Duchenne Muscular Dystrophy Patients

Courtesy Cincinnati Children's Hospital(CINCINNATI) -- Although he made it to 29 years old with Duchenne muscular dystrophy, Jason Williams was not expected to survive more than another year.

But this week, doctors announced that Williams no longer has an expiration date.  Thanks to a groundbreaking surgery that's never been performed on a Duchenne patient in the United States before, there's no telling how many more birthdays he'll be around for.

"The most important thing this device has given him is hope, because without it, we know what's going to happen," said heart surgeon Dr. David Morales, who implanted Williams' Left Ventricular Assist Device, or LVAD, on Sept. 5 with a team of doctors at Cincinnati Children's Hospital.

Duchenne muscular dystrophy is an inherited disease characterized by progressive muscle weakness because of a mutated protein gene.  It only affects boys, and usually sets in when the child is between 2 and 6 years old, first confining the child to a wheelchair and ultimately weakening his heart and killing him by his late teens or early 20s.

"He's going to be with us longer than we ever anticipated he would be," said Williams' mother, Karen Jones, as she stood next to her son, who wore a Cincinnati Reds T-shirt and Cincinnati Bengals pants during the news conference.  

Williams gazed out at the crowd from his wheelchair, puffing from a tube to help him breathe.  When reporters asked what he was looking forward to, he told them: the Reds.

Williams was diagnosed when he was 7 years old, and has been a patient at Cincinnati Children's Hospital, 70 miles away from his home in Peeble, Ohio, ever since.

When his doctors asked him to be the first Duchenne patient to receive a LVAD to help his weakened heart muscle pump blood to the rest of his body long-term, he delved into research before deciding to commit.

"I just thought it might improve my health," he said in a telephone interview the night before the conference.  During the conference, he added, "I wanted what would give me more energy."

Adding to that motivation, Williams' younger cousin has the same disease, his mother said.  Experimental surgery on Williams could mean progress for his cousin and other younger boys with Duchenne.  About 2,500 boys are born with Duchenne every year.

Although LVADs are often temporarily implanted while patients await heart transplants, something Duchenne patients are not eligible for, doctors hope to use LVADs in patients like Williams until stem cell therapy becomes a reality.  Doctors will study how the LVAD affects the right side of Williams' weakened heart and how the availability of better blood flow to the rest of his tissue improves or prevents his condition from progressing.

Copyright 2012 ABC News Radio


Deadly Disease Strikes Brothers, but Only One Gets Healing Drug

Handout/Justin Ferland Photography(SAXTONS RIVER, Vt.) -- The Leclaire brothers were born with the same deadly disease -- Duchenne muscular dystrophy. Max, 10, is in a clinical trial for a new drug that has miraculously reversed some of his debilitating symptoms, but Austin, 13, has been turned away.

Austin watches from his wheelchair as his younger brother's strength continues to return. Max was able to climb a big sledding hill in his Saxtons River, Vt., backyard, but his older brother's muscles are so weak, he can barely feed himself.

The boys have the same gene mutation that the drug targets and will eventually kill them, but because Austin can no longer walk, he did not qualify for the trial.

"My brother says he's doing it for me, that he's trying really hard," Austin told ABC News. "That's why he wanted to do it."

For the last 52 weeks, Max has been enrolled in a clinical trial with the drug eteplirsen, manufactured by Sarepta Therapeutics. Once a week, he receives intravenous infusions in a double blind study.

But after only 16 weeks, his parents suddenly realized he was on the drug and not a placebo. Not only was the progression of the disease slowing down, "he has even gained skills," said his mother, Jenn Mcnary, 32.

There is no cure for Duchenne muscular dystrophy. Until now, doctors can only use steroids, which just temporarily delays the inevitable loss of muscle strength.

"My husband noticed first at the airport," said Mcnary. "He said, 'I think he's on the drug and a high dose.' Max opened one of the McDonald's milk jugs with the sealed top. He never had that sort of grip strength."

For the last year, Max has flown to Nationwide Children's Hospital in Columbus, Ohio, for his IV treatment, but now, he goes to the Dartmouth Medical Center in nearby New Hampshire.

After seeing the success of the drug, the first of its kind, researchers put all 12 of the study subjects on that treatment. According to Mcnary, the children on the highest dose of the drug have made a 68-meter gain in distance in six-minute walking tests.

But in the time that Max has improved, Austin has deteriorated and now can't even pick up a drinking glass, said his mother.

"He has lost his ability to unlock a door handle and leave the house and move from the bed to the wheelchair," said Mcnary. "And in the next six months, we expect more sleep apnea that will require a breathing machine."

Austin enjoys his computer, but he can no longer use his go-cart because he has lost the back strength to sit up. He is homeschooled by his mother because he gets too fatigued in a regular classroom.

So far, the Mcnarys' pleas to the drug company have fallen on deaf ears.

"I have been getting very vague answers," said Mcnary. "I keep getting the same answer. They tell me to be patient."

Dr. Edward M. Kaye, chief medical officer and senior vice president of Sarepta, wrote in an email to Mcnary that she shared with ABC News that he is "sympathetic" to their case.

"This remains a priority for us to get the drug not only to Austin but to other children who may benefit from the therapy," he said in the email. "This is a challenging request since it involves complex regulatory, political, manufacturing, and fiscal issues that need to be addressed before a compassionate access program can be developed."

A spokesman for Sarepta told ABC News that the "path forward" for eteplirsen will depend on its discussions with the FDA later this year. In a statement, the company said it "... understands the urgent need of boys with DMD and their families," but cannot publicly speak about patients in its clinical trials.

Duchenne muscular dystrophy affects one in 3,500 male births, about 20,000 children in the United States and 300,000 worldwide, according to Cure Duchenne, one of three organizations that have funded the clinical trial.

The muscular disease strikes between the ages of 3 and 5 as boys progressively lose their ability to walk. Eventually, they are wheelchair bound, their upper body strength fails, and, like Austin, they eventually cannot raise their arms to feed themselves. Later, their breathing is affected and they require tracheotomies and breathing assistance. Eventually, the heart and lungs fail.

The drug is not a cure, but shows promise, according to Cure Duchenne founder Debra Miller, who has a 15-year-old with the disease. It is the first to target specific mutations in the gene that makes dystrophin, the protein that helps strengthen muscle fibers.

"We want to do everything we can to get this drug for all the boys and we are working with Sarepta," she said. "My son is still walking, but I can definitely see the weakness and it's like a stab in the stomach. The worst part is that every year he can do less than the year before."

But with only 12 research subjects having access to the drug right now, "It's a good news, bad news story," she said.

"We lived our life thinking this was a hopeless disease, but we have a good feeling about this drug," said Miller. "We are very hopeful and very cautious."

Her son is not in the clinical trial because the drug does not target his specific genetic mutation. But, she said, this trial has given other families the "proof of principle" that this type of drug can work.

As for the Mcnarys' children, Austin was diagnosed at the age of 3, when Max was already 3 months old -- too late for genetic testing. When Mcnary wanted more children, she was found not to be a carrier. Rather, she had a spontaneous mutation in her eggs.

"This can happen in any family," said Mcnary, who has six children in all, the Leclaire boys, who are from a previous relationship, her husband's twins and two healthy children from their marriage together, aged 4 and 1.

In the last year, the family has been "torn emotionally," according to Mcnary.

"I am clearly happy for Max because he is doing so well and exceeding our expectations for this drug," said Mcnary. "But it's taking much longer than we ever thought for the drug company to at least grant access to his brother [Austin] who is sitting home watching his brother get treatment."

"For the longest time, I felt so scared, because in the beginning, we weren't allowed to say anything about the clinical trial," she said.

But now Mcnary and her husband, Craig, who runs a Roto-Rooter franchise, have been talking to whomever will listen. For the past six months, they have been emailing Sarepta's executives.

"I am like a broken record," said Mcnary. "I congratulate the drug company who are now public and doing well. Their stocks are going up. We are not just looking out for Austin. We have a lot of friends in the (muscular dystrophy) community. People are losing their upper body strength just waiting for this. This is urgent right now."

Copyright 2012 ABC News Radio

ABC News Radio